Sequence analysis of the exons of protein-coding genes in the genome typically performed by target enrichment or capture of exons followed by next-generation sequencing (NGS). Exome sequencing techniques have nonstandardized, highly variable coverage; of particular note are regions of the exome refractory to accurate sequencing by this method (including genes with a pseudogene, highly repetitive coding regions, and large deletions and duplications). Laboratories may also include sequence analysis of some noncoding regions of the genome (e.g., promoters, highly conserved regulatory sequences). Note that the term "exome sequencing" is preferred over the formerly used term "whole-exome sequencing" because coverage of the exome is less than 100%, and thus the "whole" exome is not sequenced.

Related terms: coding region; exome; exon; genome sequencing; next-generation sequencing