Genetics & Biotechnology Vocabulary: 100 Key English Terms
Genetics and biotechnology work in English: protocols, kit manuals, databases, journal articles, conference talks and lab meetings share the same vocabulary all over the world. This glossary collects the words a newcomer needs first, from DNA, genes and inheritance to mutations, gene expression, PCR, sequencing, CRISPR, bioinformatics, biotech products and bioethics. Each entry explains the meaning in plain English, shows how researchers really use the word and gives its Turkish equivalent.
100 terms
10 topics
50 core terms
201 example sentences
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No account needed. Read the meaning, see where the term is used, then study the examples. Click any word in the lesson for help. You can also select a word and press Alt + Enter.
DNA, Genes and Chromosomes
DNA
abbreviation
Meaning
Deoxyribonucleic acid: the long, double-stranded molecule that stores the genetic instructions of almost all living things, written in four chemical bases: A, T, G and C.
Where you use it
The most basic word in the field, used in every lab, paper and lecture. You extract, purify, amplify, sequence and quantify DNA. It is usually uncountable: say 'DNA was extracted', not 'a DNA'. Common types are genomic DNA (gDNA), complementary DNA (cDNA) and plasmid DNA.
Examples
We extracted DNA from 48 blood samples this morning.
Check the DNA concentration and purity before you set up the PCR.
Usage note
Say the letters the English way, 'dee-en-ay', not the Turkish way.
Common phrases
extract DNA · genomic DNA · DNA sample · DNA concentration · DNA damage
A section of DNA that carries the instructions for making a protein or a functional RNA molecule; it is the basic unit of heredity passed from parents to children.
Where you use it
Used constantly in research and clinical genetics. A gene can be expressed, silenced, mutated, cloned, knocked out or edited. Human genes have official symbols such as BRCA1 or TP53, written in italics. Researchers often talk about the 'gene of interest' and 'candidate genes'.
Examples
Mutations in this gene are linked to an inherited form of breast cancer.
We cloned the gene of interest into an expression vector.
Usage note
Pronounced /dʒiːn/, exactly like 'jeans'. It is countable: one gene, two genes.
Common phrases
gene of interest · candidate gene · gene function · express a gene · silence a gene
The complete set of DNA in an organism or cell, including all of its genes and the DNA between them.
Where you use it
Used in genomics, sequencing and evolution. People sequence, assemble, annotate and edit a genome. The human genome has about 3 billion base pairs and roughly 20,000 protein-coding genes. You also hear 'genome-wide', 'genome assembly' and 'genome editing'.
Examples
A bacterial genome is only a few million base pairs, so we can sequence it in a day.
Our lab uses CRISPR to make precise changes in the mouse genome.
Usage note
Stress the first syllable: JEE-nome. The genome is the whole DNA set; genomics is the field that studies it.
Common phrases
human genome · sequence a genome · genome assembly · genome-wide · genome editing
A long, tightly packed structure of DNA and proteins inside the cell nucleus. Humans normally have 46 chromosomes, arranged in 23 pairs.
Where you use it
Used in cytogenetics, inheritance and genome analysis. Human chromosomes are numbered 1 to 22, plus the sex chromosomes X and Y. People describe locations such as 'on chromosome 17' or 'the short arm of chromosome 5'. A karyotype shows a person's full set of chromosomes.
Examples
Down syndrome is caused by an extra copy of chromosome 21.
The gene is located on the long arm of chromosome 7.
Usage note
The adjective is 'chromosomal', as in 'a chromosomal abnormality'.
Common phrases
sex chromosome · extra chromosome · on chromosome 7 · chromosome number · chromosomal abnormality
Ribonucleic acid: a usually single-stranded molecule, similar to DNA, that carries genetic information or helps make proteins. It uses the base uracil (U) instead of thymine (T).
Where you use it
Used in gene expression studies, virology and vaccine work. Common types are mRNA, tRNA, rRNA and small RNAs such as microRNA. RNA breaks down easily, so labs use RNase-free tubes and work on ice. People say 'isolate RNA', 'RNA quality' and 'RNA-seq'.
Examples
Keep the RNA samples on ice and use filter tips.
We converted the RNA into cDNA before running the qPCR.
Two bases on opposite DNA strands that are held together: A pairs with T, and G pairs with C. It is also the standard unit for measuring the length of DNA.
Where you use it
Used whenever people talk about DNA size. The abbreviation is bp; larger units are kb (kilobase, 1,000 bp) and Mb (megabase, one million bp). You write 'a 300 bp product' and say 'three hundred base pairs' or 'three hundred bee-pee'.
Examples
The deletion removes about 1,200 base pairs from intron 4.
Each base pair is held together by hydrogen bonds.
Usage note
Strictly, base pairs measure double-stranded DNA; for single-stranded DNA or RNA, people count bases or nucleotides (nt).
Common phrases
base pair (bp) · kilobase (kb) · base pairing · a 500-base-pair fragment
The basic building block of DNA and RNA, made of a sugar, a phosphate group and one of four bases. Long chains of nucleotides form a DNA or RNA strand.
Where you use it
Used in molecular biology, sequencing and genetics. People talk about nucleotide sequences, nucleotide changes and single-nucleotide variants. In the lab, 'dNTPs' are the free nucleotides added to a PCR. Short sequences are measured in nucleotides (nt).
Examples
A single nucleotide change in this codon replaces glycine with valine.
The guide RNA has a 20-nucleotide sequence that matches the target.
The shape of a DNA molecule: two strands twisted around each other like a spiral staircase, with the bases forming the steps in the middle.
Where you use it
Used in teaching, popular science and structural biology. The structure was first described in 1953. During replication and transcription the two strands 'unwind' or 'separate'. The strands run in opposite directions, which is called antiparallel.
Examples
During replication, the double helix unwinds and each strand serves as a template.
The discovery of the double helix explained how genetic information could be copied.
Common phrases
DNA double helix · unwind the double helix · structure of the double helix
The process by which a cell makes an exact copy of its DNA before it divides, so that each new cell receives a full set of genetic information.
Where you use it
Used in cell biology, cancer research and genetics teaching. Replication is called 'semi-conservative' because each new DNA molecule keeps one old strand. Key words are origin of replication, DNA polymerase, leading strand and lagging strand. Replication errors are one source of mutations.
Examples
DNA replication takes place during the S phase of the cell cycle.
Many chemotherapy drugs stop cancer cells from dividing by blocking DNA replication.
Common phrases
origin of replication · replication fork · errors in DNA replication · block DNA replication
A specific position on a chromosome where a particular gene or DNA sequence is found. The plural is loci.
Where you use it
Used in genetics papers, GWAS and genome browsers. Researchers map a locus, identify risk loci and talk about the 'HLA locus'. A GWAS may report 'a new locus on chromosome 9'. The plural 'loci' is pronounced 'LOH-sigh' or 'LOH-kee'.
Examples
The study identified a new locus associated with type 2 diabetes.
This locus contains three genes, so we don't know yet which one is responsible.
Usage note
Remember the Latin plural: one locus, two loci. 'Locuses' is wrong.
Common phrases
risk locus · genetic locus · map a locus · HLA locus · susceptibility locus
One of the different versions of a gene that can exist at the same position on a chromosome. You inherit one allele of each gene from each parent.
Where you use it
Used in inheritance, population genetics and clinical reports. Alleles can be dominant or recessive, common or rare, wild-type or mutant. Researchers talk about allele frequency, risk alleles and 'carrying one copy of the allele'.
Examples
She carries one copy of the risk allele, but she has no symptoms.
This allele is much more common in Mediterranean populations.
Usage note
Pronounced 'uh-LEEL', with the stress on the second syllable.
The genetic makeup of an individual, usually meaning the specific pair of alleles a person or organism has for a particular gene.
Where you use it
Used as a noun and a verb. Clinicians and researchers write a genotype as AA, Aa or aa, or describe it as homozygous or heterozygous. As a verb, 'to genotype' means to test which alleles an individual carries: 'we genotyped all the mice'. It is often contrasted with phenotype.
Examples
We genotyped all the pups by PCR at three weeks of age.
Patients with the same genotype can still show very different symptoms.
Common phrases
genotype data · determine the genotype · genotype frequency · genotyping assay
The observable characteristics of an organism, such as height, eye color or a disease, which result from its genes together with the environment.
Where you use it
Used in clinical genetics, model organism research and plant breeding. Researchers describe, observe and characterize a phenotype; a knockout mouse may 'show no obvious phenotype'. Clinicians often speak of 'genotype–phenotype correlation'.
Examples
The knockout mice showed no obvious phenotype until they were six months old.
We found a clear link between genotype and phenotype in this family.
Common phrases
clinical phenotype · mild phenotype · severe phenotype · genotype–phenotype correlation · show a phenotype
The passing of genetic characteristics from parents to their offspring through genes.
Where you use it
Used in clinical genetics and genetic counseling to describe how a condition runs in a family. Key phrases are 'autosomal dominant inheritance', 'autosomal recessive inheritance' and 'X-linked inheritance'. The verb is 'inherit' and the adjectives are 'inherited' and 'hereditary'.
Examples
The family history suggests an autosomal dominant pattern of inheritance.
A characteristic of an organism, such as eye color, height, disease risk or drought tolerance, that can be passed on or influenced by genes.
Where you use it
Used in genetics, breeding and evolution. Traits can be simple (controlled by one gene) or complex (influenced by many genes and the environment). Breeders 'select for' useful traits, and GWAS look for variants linked to a trait. 'Sickle cell trait' means being a carrier.
Examples
Height is a complex trait influenced by thousands of genetic variants.
The breeders selected for a trait that gives the wheat better heat tolerance.
Common phrases
complex trait · inherited trait · quantitative trait · select for a trait · sickle cell trait
Describes an allele that shows its effect even when only one copy is present, so it hides the effect of the other allele.
Where you use it
Used in inheritance and clinical genetics. A condition is 'autosomal dominant' when one altered copy on a non-sex chromosome is enough to cause it, as in Huntington disease. Each child of an affected parent then has a 50% chance of inheriting it. The noun is 'dominance'.
Examples
Huntington disease has a dominant pattern of inheritance.
In pea plants, the allele for purple flowers is dominant over the allele for white flowers.
Describes an allele whose effect only appears when a person has two copies of it, one from each parent.
Where you use it
Used in inheritance, carrier screening and genetic counseling. In autosomal recessive conditions such as cystic fibrosis or beta thalassemia, two carrier parents have a 25% chance of an affected child in each pregnancy. These conditions are more common when the parents are related.
Examples
Beta thalassemia is a recessive condition, so both parents must be carriers.
Recessive disorders are more frequent in families where the parents are cousins.
Having two different alleles of a particular gene, one inherited from each parent.
Where you use it
Used in clinical reports, genotyping and animal breeding. A report may say 'a heterozygous pathogenic variant was detected'. The nouns are 'heterozygote' (the individual) and 'heterozygosity'. In the lab, people often say 'het' for short: 'het mice'.
Examples
The patient is heterozygous for the variant, which fits with dominant inheritance.
We crossed two heterozygous mice to get knockout pups.
Having two identical alleles of a particular gene, because the same version was inherited from both parents.
Where you use it
Used in clinical genetics, model organisms and plant breeding. Patients with a recessive disease are usually homozygous for the variant. In mouse work, a 'homozygous knockout' has both copies of the gene inactivated; people often say 'homs' or write 'KO/KO'.
Examples
Both affected siblings are homozygous for the same variant.
Homozygous knockout mice did not survive past birth.
A person who has one copy of a recessive disease-causing variant, usually without symptoms, and who can pass the variant on to their children.
Where you use it
Used in genetic counseling, carrier screening and family studies. People are 'carriers of' a condition or a variant. Couples who are both carriers of the same recessive condition are referred for genetic counseling. Women can be carriers of X-linked conditions such as hemophilia.
Examples
Both partners are carriers of beta thalassemia, so they were referred to a genetic counselor.
Expanded carrier screening now covers hundreds of recessive conditions.
Common phrases
carrier screening · carrier status · healthy carrier · carrier of a variant · carrier frequency
A chart that shows the members of a family across several generations and which of them have a particular trait or condition.
Where you use it
Used in clinical genetics and genetic counseling to work out the mode of inheritance. Standard symbols are used: squares for males, circles for females, filled shapes for affected people and a double line for a couple who are blood relatives. Clinicians 'draw', 'take' or 'analyze' a pedigree.
Examples
The genetic counselor drew a three-generation pedigree during the first visit.
In this pedigree only males are affected, and they are linked through healthy mothers, which suggests X-linked inheritance.
Usage note
In everyday English 'pedigree' also means the recorded ancestry of a pure-bred animal.
Common phrases
draw a pedigree · family pedigree · pedigree analysis · three-generation pedigree
Genome-wide association study: a study that tests hundreds of thousands of genetic variants in many people to find which ones are more common in those with a particular trait or disease.
Where you use it
Used in population genetics and research on complex diseases. A GWAS reports associated loci, usually shown in a Manhattan plot, with a significance threshold of p < 5 × 10⁻⁸. Most researchers pronounce it 'JEE-wass'. The plural is written GWASs or 'GWAS studies'.
Examples
A large GWAS identified more than 200 loci linked to type 2 diabetes.
The GWAS signal falls in a non-coding region, so we don't know the causal gene yet.
Usage note
'GWAS studies' repeats the word 'study', but it is very common and accepted in practice.
Common phrases
GWAS hit · GWAS signal · large-scale GWAS · GWAS summary statistics · Manhattan plot
A permanent change in the DNA sequence. It may have no effect, cause disease or, occasionally, give an advantage.
Where you use it
Used across research, cancer biology and evolution. A gene can carry or acquire a mutation; mutations can be inherited or arise spontaneously. In clinical reports 'variant' is now preferred, because 'mutation' sounds harmful to patients. The verb is 'mutate'.
Examples
The tumor carries a mutation in the KRAS gene.
UV light can cause mutations in skin cells.
Common phrases
carry a mutation · acquire a mutation · driver mutation · loss-of-function mutation · mutation rate
A difference in a DNA sequence compared with a reference sequence. It is the neutral word used in clinical genetics, whether the change is harmful or harmless.
Where you use it
The standard term in clinical genetic reports. Variants are classified into five groups: pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign and benign. In virology, 'variant' also means a version of a virus, such as a new SARS-CoV-2 variant.
Examples
The report lists one variant of uncertain significance in the MYH7 gene.
Most variants in the human genome have no effect on health.
Usage note
In clinical writing, prefer 'variant' to 'mutation'; it is more precise and less alarming for patients.
Common phrases
genetic variant · rare variant · variant of uncertain significance · classify a variant · pathogenic variant
A change of a single base in the DNA sequence, for example a G replaced by an A.
Where you use it
Used in genetics, cancer research and protein engineering. Point mutations can be silent (no change in the protein), missense (one amino acid changes) or nonsense (an early stop codon appears). Researchers 'introduce' a point mutation by site-directed mutagenesis.
Examples
Sickle cell disease is caused by a point mutation in the beta-globin gene.
We introduced a point mutation to remove the phosphorylation site.
Common phrases
introduce a point mutation · missense mutation · nonsense mutation · single point mutation
Single nucleotide polymorphism: a position in the genome where people commonly differ by one base. SNPs are the most common type of genetic variation.
Where you use it
Used in population genetics, GWAS, ancestry testing and genotyping arrays. Each SNP has an ID starting with 'rs', such as rs429358. Most researchers say 'snip', and the plural 'SNPs' is 'snips'. Rare single-base changes are usually called SNVs instead.
Examples
The genotyping array tests about 700,000 SNPs across the genome.
This SNP in the APOE gene is linked to the risk of Alzheimer's disease.
Usage note
Say 'snip', not the letters. Turkish labs often read it letter by letter, but international colleagues expect 'snip'.
Common phrases
SNP array · SNP genotyping · common SNP · risk SNP · tag SNP
A type of mutation in which part of the DNA sequence is lost, from a single base to a large section of a chromosome.
Where you use it
Used in clinical genetics, cytogenetics and research. Reports describe deletions by size and location, such as 'a 3 bp deletion' or 'a 22q11.2 deletion'. Small insertions and deletions together are called indels. The verb is 'delete': 'exon 4 is deleted'.
Examples
The most common cystic fibrosis variant is a three-base deletion that removes one amino acid.
Microarray analysis found a small deletion on chromosome 22.
Common phrases
large deletion · in-frame deletion · 22q11.2 deletion · exon deletion · deletions and duplications
A mutation that adds or removes a number of bases that is not a multiple of three, which shifts the way codons are read and usually produces a faulty, shortened protein.
Where you use it
Used in clinical genetics, cancer research and CRISPR work. Frameshift mutations usually cause loss of function, so CRISPR knockouts often rely on them. In variant names they appear with 'fs', as in p.Leu55fs. People say a variant 'causes a frameshift'.
Examples
A single-base insertion caused a frameshift mutation and a premature stop codon.
We screened the clones for frameshift mutations in both alleles.
Common phrases
cause a frameshift mutation · frameshift variant · in-frame or frameshift · premature stop codon
A mutation that happens in a body cell after conception. It is not present in egg or sperm cells, so it is not passed on to children.
Where you use it
Used mainly in cancer genetics, where tumors are sequenced to find somatic mutations that drive growth or guide treatment. Researchers compare tumor DNA with the patient's normal DNA ('tumor–normal' sequencing) to separate somatic variants from germline ones.
Examples
Somatic mutations in EGFR can make lung cancer respond to targeted drugs.
We sequenced matched blood samples to filter out germline variants and keep only somatic mutations.
The line of reproductive cells, meaning eggs, sperm and the cells that produce them, through which DNA is passed to the next generation.
Where you use it
Often used before another noun: a germline variant is present in every cell from conception and can be inherited, unlike a somatic one. Common phrases are 'germline testing', 'germline mutation', 'in the germline' and 'germline editing'. Some writers spell it 'germ line'.
Examples
She has a germline BRCA2 variant, so her relatives were offered testing.
Because the variant is in the germline, it is present in every cell of the body.
Common phrases
germline variant · germline mutation · germline testing · in the germline · germline transmission
Causing disease. In clinical genetics, it describes a variant for which there is strong evidence that it causes a particular condition.
Where you use it
A key word in genetic reports, which classify variants as pathogenic, likely pathogenic, uncertain significance, likely benign or benign. Normally only pathogenic and likely pathogenic variants are used for clinical decisions. In microbiology, 'pathogenic' describes bacteria or viruses that cause disease.
Examples
The lab classified the variant as likely pathogenic.
No pathogenic variants were found in the 50 genes on the panel.
Usage note
The opposite is 'benign'. A variant of uncertain significance (VUS) should not be treated as pathogenic.
A difference between people in the number of copies of a section of DNA, often thousands of base pairs or longer, caused by deletions or duplications.
Where you use it
Abbreviated CNV. Used in clinical genetics, cytogenetics and genomics. CNVs are detected by chromosomal microarray, MLPA or sequencing data. Some are harmless, while others cause developmental disorders. Reports describe a CNV as a 'gain' (duplication) or a 'loss' (deletion).
Examples
The microarray found a copy number variation that explains the child's developmental delay.
Copy number variation in this region is common in healthy people and is classified as benign.
Common phrases
copy number variation (CNV) · CNV analysis · copy number gain · copy number loss · detect a CNV
The process by which the information in a gene is used to make a product, usually a protein, and the level at which this happens in a cell.
Where you use it
Used constantly in molecular biology papers and lab meetings. Researchers measure, compare, induce and suppress gene expression, often with qPCR or RNA-seq. Typical phrases are 'expression levels', 'differential gene expression' and 'high expression in the liver'.
Examples
We measured gene expression in treated and untreated cells by qPCR.
Drought stress changes gene expression in the plant within a few hours.
The first step of gene expression, in which an enzyme called RNA polymerase copies the DNA sequence of a gene into a matching RNA molecule.
Where you use it
Used in molecular biology and gene regulation. Transcription starts at the promoter, and transcription factors can activate or repress it. People say a gene is 'actively transcribed' or 'transcriptionally silent'; the RNA product is called a transcript.
Examples
This drug blocks transcription by binding to RNA polymerase.
Heat shock rapidly switches on transcription of these genes.
Usage note
Do not confuse it with 'translation'. Transcription makes RNA from DNA; translation makes protein from RNA.
The process in which ribosomes read the codons of an mRNA molecule and join amino acids together in the right order to build a protein.
Where you use it
Used in molecular and cell biology. Translation starts at a start codon (AUG) and ends at a stop codon. Researchers talk about translation efficiency and inhibitors of translation. In this field the word does not mean translating a text unless the context clearly says so.
Examples
Cycloheximide is often used to block translation in cultured cells.
Translation of the mRNA stops when the ribosome reaches a stop codon.
Messenger RNA: the RNA copy of a gene that carries its instructions from the DNA in the nucleus to the ribosomes, where the protein is made.
Where you use it
Used in gene expression studies, where mRNA levels are measured by qPCR or RNA-seq, and in medicine since mRNA vaccines became widely known. Say 'em-ar-en-ay'. In eukaryotes, mature mRNA has a 5′ cap and a poly(A) tail, and its introns have been removed.
Examples
The mRNA levels of the gene doubled after treatment.
mRNA vaccines give cells the instructions to make a viral protein.
A region of DNA just before a gene where RNA polymerase and transcription factors bind to start transcription.
Where you use it
Used in gene regulation and genetic engineering. Promoters can be strong or weak, constitutive (always on) or inducible (switched on by a signal). When building a construct, you put a gene 'under the control of' a promoter such as CMV.
Examples
We cloned the gene under a strong promoter to get high expression.
Methylation of the promoter switches the gene off in tumor cells.
Common phrases
strong promoter · inducible promoter · promoter region · under the control of a promoter · promoter activity
A sequence of three bases in DNA or mRNA that codes for one amino acid or signals the start or end of protein building.
Where you use it
Used in molecular biology, protein engineering and clinical genetics. There are 64 codons: AUG is the usual start codon, and UAA, UAG and UGA are stop codons. 'Codon optimization' means changing codons so that a gene is expressed better in another organism.
Examples
The variant changes codon 12 from GGT to GTT.
We ordered a codon-optimized version of the gene for expression in E. coli.
A part of a gene that stays in the mature mRNA after splicing; most exons contain sequence that codes for the protein.
Where you use it
Used in clinical genetics, primer design and sequencing. Exons are numbered from the start of the gene: 'exon 1', 'exon 11'. Exome sequencing reads all the exons, qPCR primers are often designed across exon–exon junctions, and 'exon skipping' is a common splicing term.
Examples
The variant is in exon 11, which codes for the binding domain.
Design the qPCR primers across an exon–exon junction so that they don't amplify genomic DNA.
A section of a gene that is copied into RNA but cut out during splicing, so it does not appear in the mature mRNA.
Where you use it
Used in gene structure, splicing and clinical genetics. Introns are numbered like exons ('intron 4'). Variants deep inside an intron are often harmless, but changes near the exon–intron boundary can disrupt splicing. In most human genes, introns are much longer than exons.
Examples
The variant lies two bases into intron 6 and is predicted to affect splicing.
Most bacterial genes have no introns, so we can express them directly from genomic DNA.
Usage note
The adjective is 'intronic', as in 'a deep intronic variant'.
A protein that binds to specific DNA sequences, usually near a promoter, and switches the transcription of certain genes on or off.
Where you use it
Used in gene regulation, developmental biology and cancer biology. Transcription factors act as activators or repressors and recognize binding sites, also called motifs. Researchers study them with ChIP-seq and reporter assays. Well-known examples include p53, OCT4 and SOX2. Often shortened to TF.
Examples
This transcription factor activates genes involved in the response to low oxygen.
We found a binding site for the transcription factor in the promoter.
Common phrases
transcription factor binding site · master transcription factor · bind a transcription factor · transcription factor activity
The study of changes in gene activity that do not alter the DNA sequence itself, such as DNA methylation and chemical marks on histone proteins.
Where you use it
Used in research on development, aging, cancer and the effect of the environment on genes. The adjective 'epigenetic' is very common: epigenetic changes, epigenetic marks, epigenetic regulation. Some epigenetic marks are copied from cell to cell when cells divide.
Examples
Diet and smoking can leave epigenetic marks on immune cells.
Her lab studies epigenetics in plant responses to drought.
Usage note
Like 'genetics', 'epigenetics' takes a singular verb: 'epigenetics is a fast-growing field'.
Common phrases
epigenetic changes · epigenetic marks · epigenetic regulation · DNA methylation · histone modification
To increase the expression or activity of a gene or protein. The opposite is 'downregulate'.
Where you use it
Very common in results sections and lab meetings, often in the passive: 'the gene was upregulated twofold in treated cells'. A treatment can also 'upregulate' a pathway. Some journals write 'up-regulate' with a hyphen. The noun is 'upregulation'.
Examples
Twenty genes were upregulated more than fourfold after infection.
Polymerase chain reaction: a lab method that makes millions of copies of a chosen DNA region by repeating cycles of heating and cooling with primers and a DNA polymerase.
Where you use it
The most common technique in molecular labs. You set up, run and optimize a PCR in a thermal cycler, then check the product on a gel. Each cycle has three steps: denaturation, annealing and extension. 'PCR' means both the method and a single reaction: 'my PCR didn't work'.
Examples
I set up the PCR with a master mix and ran 35 cycles.
The PCR product was about 500 base pairs long.
My PCR keeps failing, so I'm going to try a lower annealing temperature.
Usage note
Read the letters the English way: 'pee-see-ar'.
Common phrases
run a PCR · set up a PCR · PCR product · PCR conditions · PCR amplification
A short, single-stranded piece of DNA, usually 18 to 25 bases long, that binds to a matching sequence and gives DNA polymerase a starting point for copying.
Where you use it
Used in PCR, qPCR and Sanger sequencing. Primers work in pairs: a forward primer and a reverse primer. Researchers design, order, test and validate primers and check their melting temperature (Tm) and specificity. 'Primer dimers' are unwanted products formed when primers bind to each other.
Examples
I designed new primers because the old pair also amplified a second band.
The forward primer binds just upstream of exon 3.
Usage note
In this sense it is pronounced 'PRY-mer'. Do not confuse it with 'primer' meaning a first coat of paint.
Common phrases
design primers · forward primer · reverse primer · primer pair · primer dimer
A method that separates DNA, RNA or protein fragments by size by pulling them through a gel with an electric current; smaller fragments move faster.
Where you use it
Used daily to check PCR products and digests. You cast, load and run a gel, then image it under UV or blue light. DNA moves toward the positive electrode because it is negatively charged. A DNA ladder in one lane shows fragment sizes. In the lab people usually just say 'run a gel'.
Examples
We checked the PCR products by agarose gel electrophoresis.
After gel electrophoresis, we saw a single clear band at 600 base pairs.
Common phrases
agarose gel electrophoresis · run a gel · load the gel · DNA ladder · gel image
Quantitative PCR, also called real-time PCR: a type of PCR that measures the amount of DNA as it is copied, using a fluorescent signal, to show how much target was in the sample.
Where you use it
Used for gene expression, viral load and diagnostic tests. Results are given as Ct (or Cq) values: the lower the Ct, the more target there was. For RNA it is called RT-qPCR, because the RNA is first reverse-transcribed. Data are often analyzed with the ΔΔCt method against a reference gene.
Examples
We used qPCR to compare expression in tumor and normal tissue.
All qPCR reactions were run in triplicate, with GAPDH as the reference gene.
Usage note
Avoid writing 'RT-PCR' when you mean real-time PCR: RT usually means reverse transcription. 'RT-qPCR' is the clearest name.
Common phrases
run a qPCR · qPCR assay · Ct value · RT-qPCR · qPCR primers
The process of separating and purifying DNA from cells or tissue, such as blood, saliva or plant leaves, so that it can be used for PCR or sequencing.
Where you use it
A daily lab task. Typical steps are lysis, binding, washing and elution, often with spin columns or magnetic beads from a commercial kit. Afterwards, people check DNA quantity and purity; an A260/280 ratio of about 1.8 suggests clean DNA. 'DNA isolation' means the same thing.
Examples
DNA extraction from old bone samples is slow and needs a clean room.
We used a column-based kit for DNA extraction from whole blood.
Common phrases
DNA extraction kit · perform DNA extraction · DNA extraction protocol · automated DNA extraction
To make many copies of a specific DNA sequence, usually by PCR.
Where you use it
One of the most frequent verbs in methods sections. You amplify a region, fragment or exon 'using' or 'with' specific primers. The noun is 'amplification' and the product is an 'amplicon'. In cancer genetics, 'gene amplification' means extra copies of a gene in a tumor, such as HER2.
Examples
Exon 5 was amplified with the primers listed in Table 1.
The region didn't amplify, so I'll redesign the primers.
Common phrases
amplify a fragment · amplify by PCR · amplification product · fail to amplify · gene amplification
A population of cells that can keep dividing in culture for a long time, often indefinitely, and is used as a standard model in the lab.
Where you use it
Used daily in cell biology and biotech. Well-known lines include HeLa, HEK293 and CHO cells. Researchers culture, passage, freeze and authenticate cell lines and test them for mycoplasma. A line made from a patient's tumor is called 'patient-derived'.
Examples
We tested the drug on three breast cancer cell lines.
Please test the new cell line for mycoplasma before you use it.
Common phrases
human cell line · stable cell line · cancer cell line · cell line authentication · establish a cell line
A sample or reaction in an experiment that is expected to give no result, used to show that a positive signal is not caused by contamination or error.
Where you use it
Used in every well-designed experiment. In PCR it is often a no-template control (NTC), with water instead of DNA. If the negative control shows a band or signal, the run must be repeated. It is usually run alongside a positive control.
Examples
The negative control showed a faint band, so I'm going to make fresh master mix.
Always include a negative control and a positive control on every plate.
Common phrases
include a negative control · no-template control (NTC) · positive control · negative control sample
A lab tool for measuring and moving small, exact volumes of liquid. In molecular biology it usually means an adjustable micropipette used with disposable tips.
Where you use it
Used every day as a noun and a verb: 'pipette 10 µL into each well'. Common sizes are P10, P20, P200 and P1000. People change tips between samples, 'pipette up and down' to mix and calibrate pipettes regularly. American English also uses the spelling 'pipet'.
Examples
Use the P20 pipette for volumes under 20 microliters.
Pipette the master mix into the plate first, then add the DNA.
Usage note
Pronounced 'pie-PET' in American English and 'pi-PET' in British English, with the stress on the second syllable. A drinking straw is a 'straw', not a pipette.
Common phrases
pipette tip · pipette up and down · calibrate a pipette · multichannel pipette · filter tips
To centrifuge tubes for a few seconds so that all the liquid, including drops on the walls or lid, collects at the bottom.
Where you use it
Very common in spoken lab English and in protocols: 'briefly spin down the tubes before opening'. The object can also go in the middle: 'spin the tubes down'. The verb 'centrifuge' is used for longer, faster runs, such as pelleting cells.
Examples
Spin down the reagents before you open the tubes.
Can you spin the plate down? There are bubbles in some wells.
Usage note
The past form is 'spun down': 'I spun down the samples'.
Common phrases
spin down briefly · spin down the tubes · quick spin · spin down the plate
A method for detecting a specific protein in a sample: proteins are separated by size on a gel, moved onto a membrane and then detected with antibodies.
Where you use it
Used in cell biology and to confirm knockouts or protein expression. People 'run a western', 'probe with an antibody' and 'strip and reprobe' a membrane. A loading control such as actin or GAPDH shows that equal amounts were loaded. It is often written 'Western blot', with a capital W.
Examples
The western blot shows no protein in the knockout cells.
Please run a western blot with an actin loading control.
Usage note
The name is a play on the 'Southern blot' for DNA, named after the scientist Edwin Southern; there is also a 'northern blot' for RNA. Only 'Southern' is a person's name.
Common phrases
run a western blot · western blot analysis · loading control · primary antibody · band intensity
Any method that works out the exact order of bases (A, T, G and C) in a piece of DNA or RNA.
Where you use it
Used in research, diagnostics and public health. You send samples for sequencing, sequence a gene or genome and analyze the sequencing data. Common types are Sanger sequencing, next-generation sequencing, whole-genome sequencing and RNA sequencing (RNA-seq). The unit that does it is often called a 'sequencing core' or 'facility'.
Examples
We sent the samples to the core facility for sequencing.
Sequencing confirmed that the edit was in the right position.
Common phrases
DNA sequencing · sequencing data · sequencing run · send for sequencing · sequencing depth
The branch of science that studies whole genomes, including their structure, function and evolution, usually with large-scale sequencing and computer analysis.
Where you use it
Used in the names of research fields, jobs and companies: cancer genomics, plant genomics, functional genomics, a genomics core. It takes a singular verb: 'genomics is changing medicine'. 'Genomic' is the adjective: genomic DNA, genomic data, genomic medicine.
Examples
She moved from classical genetics to cancer genomics during her postdoc.
Genomics produces huge datasets, so we need strong bioinformatics support.
Usage note
Genetics usually studies single genes and inheritance; genomics looks at all the genes together.
Common phrases
cancer genomics · functional genomics · comparative genomics · genomics core · genomic data
Modern technologies that read millions or billions of DNA fragments in parallel, making it fast and cheap to sequence whole genomes, exomes or many genes at once.
Where you use it
Usually shortened to NGS. Used in research, cancer diagnostics and inherited disease testing, as in 'an NGS panel'. It is also called massively parallel or high-throughput sequencing. Short-read NGS gives reads of about 100 to 300 bases; long-read platforms give much longer ones.
Examples
Next-generation sequencing (NGS) of the tumor found two actionable mutations.
Thanks to next-generation sequencing, a human genome can now be sequenced in a few days.
Usage note
Say 'an NGS panel', not 'a NGS panel', because the letter N is pronounced with a vowel sound ('en').
In sequencing, a single DNA sequence that the machine produces from one fragment. A sequencing run produces millions of reads.
Where you use it
Used constantly in sequencing and bioinformatics. Reads can be short or long, single-end or paired-end; they are aligned (mapped) to a reference genome, filtered and counted. People talk about read length, read quality and the number of reads per sample.
Examples
We got about 40 million paired-end reads per sample.
Only 70% of the reads mapped to the reference, which suggests contamination.
Usage note
As a noun in this sense, 'read' is pronounced like the present-tense verb, and it is countable: one read, many reads.
A standard, high-quality genome sequence for a species that researchers use as a common map when aligning reads and describing variants.
Where you use it
Used in bioinformatics and clinical genomics. For humans, the main versions are GRCh37 (also called hg19) and GRCh38 (hg38). Every report and pipeline must state which build was used, because coordinates differ between versions. It is a reference standard, not the genome of one 'normal' person.
Examples
Reads were aligned to the GRCh38 reference genome.
Check which reference genome they used before you compare the coordinates.
Common phrases
align to the reference genome · reference genome build · human reference genome · reference genome version
Sequencing nearly all of an organism's DNA, both the genes and the regions between them, in a single test.
Where you use it
Abbreviated WGS. Used in research, rare disease diagnosis, cancer and pathogen surveillance. Human WGS for inherited variants is usually done at about 30x coverage. It finds more types of variants than exome sequencing but produces much more data.
Examples
Whole-genome sequencing found a deep intronic variant that the exome test had missed.
Public health labs use whole-genome sequencing to trace food poisoning outbreaks.
The average number of sequencing reads that cover each base of the target region. Higher coverage gives more confident results.
Where you use it
Used in sequencing reports, project budgets and quality control. Coverage is written with an x: '30x', said 'thirty-x'. People talk about mean coverage, minimum coverage and regions with 'low coverage'. 'Sequencing depth' or 'read depth' is used with almost the same meaning.
Examples
We sequenced the tumor at 100x coverage and the normal sample at 30x.
Exon 1 has low coverage, so we confirmed the result by Sanger sequencing.
All the exons in a genome, that is, its protein-coding part. In humans it makes up only about 1–2% of the genome but contains most known disease-causing variants.
Where you use it
Mostly heard in 'whole-exome sequencing' (WES) or simply 'exome sequencing', a common test for rare diseases. Clinicians 'order an exome', and labs may 'reanalyze the exome' later. An exome test costs less than a genome but misses most non-coding variants.
Examples
Exome sequencing found the cause of the child's epilepsy after years of tests.
We asked the lab to reanalyze the exome, because new disease genes have been described since the first test.
The classic DNA sequencing method that reads one fragment at a time, up to about 1,000 bases, with very high accuracy. It is named after Frederick Sanger.
Where you use it
Still used daily to check plasmids, confirm CRISPR edits and validate variants found by NGS. Results come as a chromatogram, also called a trace. People 'send samples for Sanger' and look for 'clean peaks'. Two overlapping peaks at one position can mean a heterozygous variant.
Examples
We confirmed every NGS finding by Sanger sequencing before reporting.
Sanger sequencing of the plasmid shows that the insert is in the right orientation.
The steps that turn a DNA or RNA sample into a form a sequencer can read, usually by breaking it into fragments and attaching short adapter sequences.
Where you use it
Used in every NGS project and usually shortened to 'library prep' in speech. Steps include fragmentation, end repair, adapter ligation, indexing (barcoding) and PCR. Researchers check library quality and size before pooling samples for a sequencing run.
Examples
Library preparation for 96 samples takes about two days.
The low read count was probably caused by poor library preparation.
Usage note
'Library' here means a collection of DNA fragments ready for sequencing, not a place with books.
A gene-editing technology, adapted from a bacterial defense system, in which a guide RNA leads an enzyme such as Cas9 to a chosen DNA sequence so that it can be cut and changed.
Where you use it
Used everywhere in modern research. The full name is 'clustered regularly interspaced short palindromic repeats'. People say 'CRISPR-Cas9', 'CRISPR screen' and 'CRISPR knockout', and in lab talk even use it as a verb: 'we CRISPRed out the gene'. Its developers received the 2020 Nobel Prize in Chemistry.
Examples
We used CRISPR to knock out the gene in a human cell line.
A genome-wide CRISPR screen identified twelve genes needed for viral entry.
Usage note
Pronounced as one word, like 'crisper' (KRIS-per), not letter by letter.
The deliberate changing of an organism's DNA in the lab, for example by adding, removing or altering genes, to give it new or improved characteristics.
Where you use it
A broad term used in teaching, industry, law and the media. It covers older recombinant DNA methods as well as newer gene editing. Scientists usually name the exact technique, but 'genetic engineering' is common in regulations, textbooks and public debate about GMOs.
Examples
Insulin for diabetes has been produced by genetic engineering since the 1980s.
The course covers the basics of genetic engineering, from restriction enzymes to CRISPR.
Common phrases
genetic engineering techniques · plant genetic engineering · advances in genetic engineering · use genetic engineering
Genetically modified organism: a plant, animal or microorganism whose DNA has been changed in a way that does not happen naturally through mating or natural recombination.
Where you use it
Used in regulation, agriculture, food labeling and public debate. Scientists often prefer 'genetically modified (GM)', 'transgenic' or 'genetically engineered'. Rules differ from country to country, and approval usually requires a risk assessment for health and the environment.
Examples
Several GMO crops, such as insect-resistant maize, are widely grown in the Americas.
The importer must prove that the soybean shipment contains no unapproved GMOs.
Usage note
Say the letters 'jee-em-oh'; the plural is GMOs. The Turkish abbreviation is GDO.
A small, circular piece of DNA found naturally in bacteria and used in the lab as a tool to carry and copy genes inside cells.
Where you use it
Used daily in cloning and protein expression. A typical plasmid has an origin of replication, an antibiotic resistance gene for selection and a site for inserting genes. Researchers grow bacteria to 'prep' plasmid DNA (miniprep, maxiprep) and share plasmids through repositories.
Examples
The plasmid carries an ampicillin resistance gene, so we grew the bacteria on ampicillin plates.
Could you send me two micrograms of the plasmid for my transfection?
Common phrases
plasmid DNA · plasmid map · expression plasmid · plasmid prep · transform a plasmid
A short RNA molecule that leads a CRISPR enzyme such as Cas9 to the exact DNA sequence to be cut, by matching about 20 bases of the target.
Where you use it
Used in every CRISPR project, often shortened to gRNA or sgRNA (single guide RNA). Researchers design, test and clone guide RNAs. A good guide sits next to a PAM sequence (NGG for the most common Cas9) and has few off-target matches. People often test several guides per gene.
Examples
We designed three guide RNAs against exon 2 and kept the most efficient one.
The guide RNA must sit right next to a PAM site.
Common phrases
design a guide RNA · single guide RNA (sgRNA) · guide RNA efficiency · guide RNA library
Making precise, targeted changes to the DNA of a living cell or organism, such as cutting out, correcting or inserting a sequence at a chosen position.
Where you use it
Used in research, medicine and agriculture; 'genome editing' means the same. CRISPR is the best-known tool, alongside newer methods such as base editing and prime editing. Clinicians separate somatic gene editing, which affects only the patient, from germline editing, which can be inherited.
Examples
Gene editing allowed us to correct the mutation in patient-derived cells.
The first approved CRISPR-based gene editing therapy is used for sickle cell disease and beta thalassemia.
A cell or organism in which a specific gene has been made inactive on purpose, so that researchers can study what happens without it.
Where you use it
Used in genetics, cell biology and mouse research: knockout mice, knockout cell lines and a 'conditional knockout' that works only in certain tissues. The noun and adjective are one word; the verb is two words: 'knock out a gene'. It is often written KO.
Examples
We confirmed the knockout by western blot: the protein is completely gone.
We generated knockout cell lines with CRISPR and checked them by sequencing.
Usage note
A 'knockdown' is different: the gene's expression is reduced, for example with siRNA, but not completely removed.
Common phrases
knockout mouse · conditional knockout · knockout cell line · confirm the knockout · double knockout
A DNA molecule, such as a plasmid or a modified virus, used to carry a gene into a cell, where it can be copied or expressed.
Where you use it
Used in cloning, protein production and gene therapy. Types include cloning vectors, expression vectors and viral vectors such as lentivirus and AAV. Researchers insert a gene into a vector and deliver the vector into cells. In epidemiology, a vector is instead an animal, like a mosquito, that spreads disease.
Examples
We cloned the gene into an expression vector with a His tag.
AAV is the most widely used viral vector for gene therapy in the eye.
Usage note
An 'empty vector' is the vector without the inserted gene; it is a standard control.
A bacterial enzyme that cuts DNA at a specific short sequence, such as GAATTC for EcoRI. It is a basic tool for cutting and joining DNA in cloning.
Where you use it
Used in classic cloning, plasmid checks and some genotyping tests. Researchers 'digest' DNA with restriction enzymes and run the 'digest' on a gel. Enzymes leave either sticky ends or blunt ends. They are also called restriction endonucleases.
Examples
We cut the plasmid with two restriction enzymes to check the insert.
The variant destroys a restriction enzyme site, so we can genotype it with a simple digest.
Common phrases
restriction enzyme digest · restriction site · cut with a restriction enzyme · sticky ends · double digest
To make copies of a DNA fragment by inserting it into a vector and growing it in cells; also, to make a genetically identical copy of a cell or organism.
Where you use it
In daily lab talk it usually means molecular cloning: 'we cloned the gene into an expression plasmid'. The noun 'clone' also means a single bacterial colony or a cell population grown from one cell: 'pick ten clones'. Methods include restriction cloning and Gibson assembly.
Examples
We cloned the coding sequence into an expression vector.
After transfection, we picked single-cell clones and checked them for the edit.
Usage note
In public debate 'cloning' usually means cloning animals, like Dolly the sheep; in the lab it nearly always means copying DNA.
Common phrases
clone into a vector · clone a gene · pick clones · single-cell clone · molecular cloning
Putting DNA or RNA into animal or human cells in culture, usually with chemical reagents or an electric pulse, so that the cells express it or are changed by it.
Where you use it
Used daily in cell biology and CRISPR work. Researchers optimize transfection efficiency and choose between transient transfection (expression for a few days) and stable transfection (DNA integrated into the genome). The verb is 'transfect': 'we transfected the cells with the plasmid'.
Examples
Transfection efficiency was about 80% based on GFP expression.
We did the transfection with a lipid reagent 24 hours after seeding the cells.
Usage note
Use 'transformation' for putting DNA into bacteria, and 'transduction' when a virus delivers the DNA.
An unwanted change at a place in the genome that was not intended, for example when a CRISPR guide RNA also cuts a similar sequence somewhere else.
Where you use it
Used in gene editing, RNA interference and drug development. Researchers predict off-target sites with software, check them by sequencing and reduce them with better guides or high-fidelity enzymes. Regulators ask for off-target analysis before gene editing therapies reach patients.
Examples
We sequenced the top ten predicted sites and found no off-target effects.
Off-target effects are one of the main safety concerns for CRISPR therapies.
The use of computers, statistics and software to store, analyze and interpret biological data, especially DNA, RNA and protein sequences.
Where you use it
The name of a research field, a job (bioinformatician) and a team (the bioinformatics core). Typical tasks are read alignment, variant calling, gene expression analysis and building pipelines, often in Python, R and Linux. Like 'genomics', it takes a singular verb.
Examples
The bioinformatics team will process the raw data and send us a list of variants.
You don't need to be a programmer, but basic bioinformatics skills are expected.
Arranging DNA, RNA or protein sequences side by side to find where they match, or placing sequencing reads in the right position on a reference genome.
Where you use it
Used in bioinformatics every day. Read alignment, also called mapping, is the first step of most NGS pipelines, with tools such as BWA or Bowtie; the output is a BAM file. A multiple sequence alignment compares many sequences, for example to build a phylogenetic tree.
Examples
The alignment step took six hours for each genome.
A multiple sequence alignment showed that this region is conserved from fish to humans.
The bioinformatics step that compares aligned reads with a reference genome to find where a sample's DNA differs, producing a list of variants.
Where you use it
Used in genomics and clinical bioinformatics. A variant caller such as GATK produces a VCF file. People 'call variants', set quality filters and compare germline with somatic variant calling. Each variant found is a 'call', and a wrong one is a 'false positive call'.
Examples
Variant calling was performed with GATK following best-practice guidelines.
Low coverage in this region makes variant calling unreliable.
A series of connected software steps that process data automatically, for example from raw sequencing reads to a final list of annotated variants.
Where you use it
Used constantly in bioinformatics. People build, run, validate and maintain pipelines, often with workflow tools such as Nextflow or Snakemake. Clinical labs must validate their pipelines and keep them under version control. In biotech business, 'pipeline' also means the drugs a company is developing.
Examples
Our RNA-seq pipeline runs alignment, counting and quality control in one go.
The company has three antibodies in its clinical pipeline.
Common phrases
bioinformatics pipeline · run a pipeline · analysis pipeline · validate a pipeline · drug pipeline
Adding biological information to sequence data, for example marking where the genes are in a genome, or giving each variant its predicted effect and population frequency.
Where you use it
Used in genomics and clinical bioinformatics. Genome annotation marks genes, exons and other features. Variant annotation adds gene names, predicted effects and database information with tools such as VEP. The verb is 'annotate': 'an annotated VCF'.
Examples
After annotation, we filtered out variants with a population frequency above 1%.
The new genome annotation adds about 300 genes that had been missed before.
The standard text file format for raw sequencing data. Each read takes four lines: a name, the base sequence, a separator line and a quality score for every base.
Where you use it
Used whenever sequencing data is shared or processed. Sequencing facilities deliver compressed FASTQ files (.fastq.gz), often two per sample for paired-end reads. Quality scores use the Phred scale: Q30 means a 1 in 1,000 chance that a base is wrong. People say it 'fast-Q'.
Examples
The facility sent us two FASTQ files per sample.
Run quality control on the FASTQ files before alignment.
Usage note
Other common formats are FASTA (sequences only), BAM (aligned reads) and VCF (variants).
Common phrases
FASTQ file · raw FASTQ files · paired FASTQ files · FASTQ quality control · Phred quality score
Basic Local Alignment Search Tool: a widely used program that compares a DNA or protein sequence with large databases to find similar sequences.
Where you use it
Run on the NCBI website or locally, and also used as a verb: 'I BLASTed the sequence'. Common versions are BLASTn for nucleotides and BLASTp for proteins. Results list 'hits' with percent identity and an E-value; the lower the E-value, the more significant the match.
Examples
I BLASTed the unknown sequence, and the top hit was a Pseudomonas species.
Check your primers with BLAST to make sure they don't bind to other genes.
Common phrases
run a BLAST search · BLAST hit · BLAST against a database · top hit · E-value
A unique code given to a sequence or dataset when it is stored in a public database such as GenBank, so that others can find exactly the same record.
Where you use it
Used in papers, data sharing and clinical reports. Journals ask authors to deposit sequencing data and give the accession numbers in the paper. RefSeq accessions starting with NM_ identify the transcript in variant names. The version comes after a dot, as in NM_000546.6.
Examples
The raw reads are available in the SRA, and the accession number is given in the data availability statement.
Always give the transcript accession number when you report a variant.
Common phrases
GenBank accession number · deposit data · under accession number · transcript accession · accession version
A branching diagram that shows how species, genes or virus strains are related through evolution, based on the similarities and differences in their sequences.
Where you use it
Used in evolution, microbiology and outbreak tracking. Researchers build or reconstruct a tree from a multiple sequence alignment and describe its branches, nodes, clades and common ancestors. During epidemics, trees show how virus variants spread.
Examples
The phylogenetic tree shows that the hospital isolates form a single cluster.
We built a phylogenetic tree from 16S rRNA sequences.
Common phrases
build a phylogenetic tree · phylogenetic analysis · branch length · common ancestor · clade
The use of living cells, organisms or biological molecules to make products or solve problems in medicine, agriculture, industry and the environment.
Where you use it
Used for the science, the industry and its companies; the short form is 'biotech', as in 'a biotech company' or 'a biotech start-up'. Branches are sometimes named by color: red (medical), green (agricultural) and white (industrial) biotechnology.
Examples
She studied biotechnology and now works on vaccine production.
Industrial biotechnology uses enzymes and microbes to replace some chemical processes.
Common phrases
medical biotechnology · agricultural biotechnology · industrial biotechnology · biotech company · biotech sector
A medical treatment that adds, replaces, silences or corrects genetic material in a patient's cells to treat or prevent a disease.
Where you use it
Used in medicine, biotech and regulation. Genes are usually delivered by viral vectors such as AAV or lentivirus, either directly into the body (in vivo) or into cells taken from the patient (ex vivo). Approved gene therapies exist for conditions such as spinal muscular atrophy and some forms of inherited blindness.
Examples
The child received a one-time gene therapy for spinal muscular atrophy.
Most gene therapy trials for eye diseases use AAV to deliver the healthy gene.
Common phrases
gene therapy trial · AAV gene therapy · ex vivo gene therapy · approved gene therapy
A protein produced by putting its gene into host cells such as bacteria, yeast or mammalian cells, which then make the protein in large amounts.
Where you use it
Used in research, enzyme production and the biopharmaceutical industry. Insulin, growth hormone and some vaccines are recombinant proteins. Researchers express, purify and characterize them, often with a tag such as a His-tag for purification. Typical hosts are E. coli, yeast and CHO cells.
Examples
We expressed the recombinant protein in E. coli and purified it on a nickel column.
Human insulin was one of the first recombinant proteins approved as a medicine.
Common phrases
express a recombinant protein · purify a recombinant protein · recombinant protein production · recombinant human insulin
An antibody made by identical immune cells, all clones of one parent cell, so that it binds to exactly one target. Many modern drugs and lab reagents are monoclonal antibodies.
Where you use it
Used in biopharma, diagnostics and research, often shortened to mAb. The names of therapeutic antibodies end in -mab, as in trastuzumab. They are usually produced in CHO cells in bioreactors. In the lab, monoclonal antibodies are compared with polyclonal ones, which bind to several sites on a target.
Examples
The company is developing a monoclonal antibody against a protein on tumor cells.
We switched to a monoclonal antibody for the western blot because it gives cleaner bands.
Common phrases
therapeutic monoclonal antibody · monoclonal antibody production · humanized monoclonal antibody · mAb
A vessel in which cells or microorganisms are grown under carefully controlled conditions, such as temperature, pH, oxygen and mixing, to make a product.
Where you use it
Used in bioprocessing, biopharma manufacturing and research. Bioreactors range from small benchtop units to tanks of thousands of liters, made of stainless steel or as single-use bags. Engineers 'scale up' a process and monitor parameters such as dissolved oxygen. For microbes, 'fermenter' is also used.
Examples
We are scaling up from a 2-liter bioreactor to a 200-liter one.
The pH in the bioreactor dropped overnight, and the cells stopped growing.
Common phrases
single-use bioreactor · bioreactor run · scale up a bioreactor · bioreactor conditions · stirred-tank bioreactor
In biotechnology, growing large numbers of microorganisms such as bacteria or yeast in tanks to make products like enzymes, insulin, antibiotics or biofuels.
Where you use it
Used in industrial biotechnology and bioprocess engineering. Processes can be batch, fed-batch or continuous. Engineers optimize the medium, feeding and harvest time. In biochemistry the word has a narrower meaning: getting energy without oxygen, as when yeast makes alcohol.
Examples
The fermentation runs for 48 hours before we harvest the cells.
Switching to fed-batch fermentation doubled our protein yield.
Common phrases
fed-batch fermentation · industrial fermentation · fermentation process · fermentation tank · scale up fermentation
A cell that can divide to make more copies of itself and can also develop into specialized cell types, such as nerve, muscle or blood cells.
Where you use it
Used in regenerative medicine, research and transplantation. The main types are embryonic stem cells, adult stem cells and induced pluripotent stem cells (iPSCs), which are made by reprogramming adult cells. Researchers 'differentiate' stem cells into other cell types. A bone marrow transplant is a kind of stem cell therapy.
Examples
We differentiated induced pluripotent stem cells into heart muscle cells.
Stem cell transplants are used to treat some types of leukemia.
A biological medicine that is highly similar to an already approved original biologic and has no meaningful differences in safety or effectiveness.
Where you use it
Used in the pharmaceutical industry, regulation and hospital purchasing. Biosimilars appear when the patents on biologics such as monoclonal antibodies or insulin expire. Unlike generic drugs, they cannot be exact copies, because they are made in living cells. The original medicine is called the 'reference product'.
Examples
Several biosimilars of the antibody entered the market after its patent expired.
The hospital switched its patients to a cheaper biosimilar.
Usage note
Do not call a biosimilar a 'generic'. Generics are exact chemical copies of small-molecule drugs.
Common phrases
biosimilar approval · biosimilar development · switch to a biosimilar · reference product · biosimilar market
Permission that a person gives freely to take part in research or to have a test or treatment, after the purpose, risks and benefits have been clearly explained.
Where you use it
Required in clinical genetics, biobanking and any research with human samples. Researchers obtain and document consent, and participants can withdraw it. For genetic studies, the consent form explains how DNA and data will be stored, shared and used in the future.
Examples
Written informed consent was obtained from all participants.
The new informed consent form explains that samples may be shared with other researchers.
Usage note
The sentence 'Written informed consent was obtained from all participants' appears in the methods section of almost every study with human participants.
Common phrases
obtain informed consent · written informed consent · informed consent form · withdraw consent · broad consent
Medical or research tests that examine a person's DNA, chromosomes or genes to find variants linked to a disease, a health risk or ancestry.
Where you use it
Used in clinics, labs and public debate. Types include diagnostic, predictive, carrier, prenatal and newborn testing. Results come in a report, ideally with genetic counseling before and after. Clinicians 'order' or 'offer' genetic testing; patients 'undergo' or 'decline' it.
Examples
Genetic testing confirmed the diagnosis of spinal muscular atrophy.
She decided to have genetic testing after her mother was diagnosed with ovarian cancer.
A service in which a trained professional helps people understand a genetic condition, the chance that it affects them or their family, and their testing options.
Where you use it
Used in clinical genetics, prenatal care and cancer clinics. Counseling is offered before and after genetic testing. In the US and UK, genetic counselors are a separate profession. Counselors aim to be non-directive: they explain the options but leave the decision to the person.
Examples
The couple had genetic counseling before deciding on prenatal testing.
Genetic counseling helped her understand what a variant of uncertain significance means.
Usage note
American spelling: counseling, counselor. British spelling: counselling, counsellor.
The rules, equipment and practices that protect lab workers, the public and the environment from harmful biological agents and genetically modified organisms.
Where you use it
Used in lab management, training and regulation. Labs work at biosafety levels BSL-1 to BSL-4, with stricter controls at each level. Work with infectious material is done in a biosafety cabinet, and GMO projects need approval from a biosafety committee. 'Biosecurity' is related but focuses on preventing theft and misuse.
Examples
All new staff must complete biosafety training before working with lentivirus.
The project was approved by the institutional biosafety committee.
Changing the DNA of eggs, sperm or early embryos, so that the change would be present in every cell of the resulting person and could be passed to future generations.
Where you use it
One of the central topics in bioethics. Many countries ban its clinical use, and the Council of Europe's Oviedo Convention prohibits heritable changes to the human genome. A 2018 case in which gene-edited twins were born drew worldwide criticism. Some countries allow research on embryos that will not be implanted.
Examples
Most scientists agree that germline editing is not yet safe enough for clinical use.
The summit discussed whether germline editing should ever be allowed, and under what conditions.
Usage note
Somatic gene editing changes only the patient's own cells and is not inherited; germline editing can be inherited.
Common phrases
human germline editing · heritable genome editing · ban on germline editing · embryo editing
A large, organized collection of biological samples, such as blood, DNA or tissue, stored together with health and personal data for use in research.
Where you use it
Used in genomics, epidemiology and research ethics. A well-known example is UK Biobank, with about half a million participants. Biobanks raise questions about consent, privacy, data sharing and returning results to participants. Researchers 'apply for access' to biobank data.
Examples
We applied for access to biobank data on 50,000 people with heart disease.
Samples stored in the biobank can be used in future studies if participants agree.
Common phrases
population biobank · biobank samples · biobank data · biobank consent · apply for biobank access
An independent group of experts and lay members that reviews research involving people or animals to protect the participants' rights, safety and welfare.
Where you use it
Used in research and publishing. Researchers submit a protocol to an ethics committee, obtain approval and give the approval number in their papers. In the US the equivalent body is an Institutional Review Board (IRB); animal studies are reviewed by a separate animal ethics committee.
Examples
The study was approved by the local ethics committee (approval no. 2025/114).
We can't start collecting samples until the ethics committee approves the amendment.
Common phrases
ethics committee approval · submit to the ethics committee · research ethics committee · institutional review board (IRB)
Ten questions from this glossary. Pick the right meaning for each term and see your score.
How to learn genetics & biotechnology vocabulary
Learn each word together with the verbs researchers use with it: extract DNA, design primers, run a PCR, sequence a sample, knock out a gene, align reads, call variants, obtain informed consent. These partnerships make your English sound natural much faster than single words.
Read real texts from the field in English every week: the methods sections of journal articles, kit manuals and protocols, gene pages in public databases and clinical genetic reports. Notice how the same verbs and phrases come back again and again.
Learn the writing conventions early: human gene symbols are written in capitals and italics (TP53), while the protein is not italic (p53); mouse gene symbols have only the first letter in capitals (Trp53). DNA sequences are written from the 5′ end to the 3′ end.
Practise saying numbers, units and symbols aloud: 'three billion base pairs', 'a 500 bp product' (five hundred base pairs), '30x coverage' (thirty-x), 'five prime to three prime', 'ten microliters' and 'a Ct value of twenty-eight'. Remember that English uses a decimal point, not a comma.
Learn the Latin and Greek plurals that appear in papers all the time: locus and loci, nucleus and nuclei, bacterium and bacteria, phenomenon and phenomena, datum and data.
Frequently asked questions
How do you pronounce gene, genome and allele in English?
Gene is pronounced /dʒiːn/, exactly like 'jeans'. Genome is 'JEE-nome', with the stress on the first syllable. Allele is 'uh-LEEL', with the stress on the second syllable. Other common traps are locus ('LOH-kus'), SNP ('snip'), CRISPR ('KRIS-per') and pipette ('pie-PET' in American English).
What is the difference between a mutation and a variant?
Both mean a change in the DNA sequence. 'Variant' is the neutral word: it says nothing about whether the change is harmful, and it is the standard term in clinical genetic reports, where variants are classified from benign to pathogenic. 'Mutation' is still common in research, especially in cancer biology and evolution, but clinical writing avoids it because patients may hear it as automatically harmful.
What is the difference between genetics and genomics?
Genetics studies genes and inheritance, often one gene or one trait at a time, for example how a disease runs in a family. Genomics studies the whole genome at once, usually with large-scale sequencing and computer analysis. In practice the two overlap, and 'genetics and genomics' are often named together in job titles, departments and courses.
Do Turkish labs use the English terms or the Turkish ones?
Both, often in the same sentence. Spoken lab Turkish keeps many English words, such as primer, read, pipeline, knockout and western blot, while textbooks, theses and official documents prefer Turkish terms such as dizileme, gen ifadesi and kılavuz RNA. Learn both: use the Turkish term in formal Turkish writing and the English term with international colleagues.
How can I improve my English for a career in genetics or biotechnology?
Read one paper a week in your own area and pay special attention to the methods and results sections, where the most repeated phrases appear. Practise describing your own experiments out loud, step by step, as if you were presenting at a lab meeting. Before a conference or job interview, prepare a short explanation of your project for specialists and another one for non-specialists.
