ExAC

ExAC aggregates exome sequencing variation data from 60,706 individuals to provide a population-scale reference of genetic variation for variant interpretation and human genetics research.

Key Features:

• Aggregated exome dataset: Consolidates exome sequence data from 60,706 individuals drawn from multiple large-scale sequencing projects.
• Population frequency data: Provides allele frequency information across sampled populations to support assessment of variant rarity.
• Functional annotations: Includes functional annotation data for variants to inform predicted molecular consequences.
• Gene- and transcript-centric views: Organizes variation data by gene and transcript to enable locus- and isoform-specific interpretation.
• Short-read support and detailed variant displays: Associates variants with short-read evidence and detailed displays to corroborate variant calls.

Scientific Applications:

• Variant interpretation: Supports interpretation of individual variants by providing population frequencies and functional context.
• Clinical genetics and diagnosis: Aids clinical laboratories and clinicians in assessing pathogenicity and population prevalence of variants relevant to genetic disease.
• Population genetics: Enables estimation of allele frequencies and studies of variation distribution across sampled cohorts.
• Gene function analyses: Facilitates investigation of gene- and transcript-level variation to inform studies of gene function and constraint.

Methodology:

Aggregates exome sequence data from 60,706 individuals across large-scale sequencing projects and integrates population allele frequencies, functional annotations, gene- and transcript-centric organization, and short-read support for variants.