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Exome

Definition
AI-generated

The exome is the set of exons—protein-coding sequences and defined splice boundaries—across the genome.

Topics
Sequencing and omics tech
Related
Codon Loss-of-Function Variant Missense Variant

Why it matters in GWAS

Coding regions carry interpretable variant classes (missense, loss-of-function) for gene-burden tests and Mendelian follow-up; common-variant GWAS more often uses arrays plus imputation rather than deep exome alone.

Example usage

"Gene-based tests aggregated rare loss-of-function variants across the exome in 50,000 cases and controls."

Codon Loss-of-Function Variant Missense Variant Open Reading Frame (ORF) Whole-Exome Sequencing (WES) Whole-Genome Sequencing (WGS)
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Ng SB, et al. (2009). Targeted capture and massively parallel sequencing of 12 human exomes. Nature.
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