Annotation

How it is used

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'.

Example sentences

1. After annotation, we filtered out variants with a population frequency above 1%.

2. The new genome annotation adds about 300 genes that had been missed before.

Common collocations

• genome annotation
• variant annotation
• functional annotation
• gene annotation
• annotation tool

Related terms

• 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.
• pipelineA series of connected software steps that process data automatically, for example from raw sequencing reads to a final list of annotated variants.
• reference genomeA standard, high-quality genome sequence for a species that researchers use as a common map when aligning reads and describing variants.
• pathogenicCausing disease. In clinical genetics, it describes a variant for which there is strong evidence that it causes a particular condition.

This word in other fields

The same English word can have a different meaning in another field:

• annotation · Software Engineering
• annotation · Artificial Intelligence & Machine Learning

More terms: Bioinformatics

• bioinformatics
• alignment
• FASTQ
• BLAST
• accession number
• phylogenetic tree