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Genetics & Biotechnology vocabulary · Sequencing and Genomics

Reference genome

Meaning in genetics & biotechnology, with examples

nounCommon term

In genetics & biotechnology, reference genome means: A standard, high-quality genome sequence for a species that researchers use as a common map when aligning reads and describing variants.

In Turkish: referans genom

How it is used

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.

Example sentences

  1. Reads were aligned to the GRCh38 reference genome.

  2. Check which reference genome they used before you compare the coordinates.

Common collocations

  • align to the reference genome
  • reference genome build
  • human reference genome
  • reference genome version
  • genomeThe complete set of DNA in an organism or cell, including all of its genes and the DNA between them.
  • alignmentArranging 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.
  • readIn sequencing, a single DNA sequence that the machine produces from one fragment. A sequencing run produces millions of reads.
  • variant callingThe bioinformatics step that compares aligned reads with a reference genome to find where a sample's DNA differs, producing a list of variants.
  • whole-genome sequencingSequencing nearly all of an organism's DNA, both the genes and the regions between them, in a single test.

More terms: Sequencing and Genomics

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