hide
Free keywords:
Animals; Base Sequence; Chromosome Mapping/methods; Disease/*genetics; Exons/*genetics; Genetic Association Studies/*methods; Genetic Predisposition to Disease; *Genome; Homozygote; Humans; Mutation; Sequence Analysis, DNA/*methods
Abstract:
In whole-exome sequencing (WES), target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, 'next-generation' sequencing of the captured fragments. Since its introduction in 2009, WES has been successfully used in several disease-gene discovery projects, but the analysis of whole-exome sequence data can be challenging. In this overview, we present a summary of the main computational strategies that have been applied to identify novel disease genes in whole-exome data, including intersect filters, the search for de novo mutations, and the application of linkage mapping or inference of identity-by-descent (IBD) in family studies.
