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Exome sequencing

A genomic technique for sequencing all of the protein-coding regions of genes in a genome - the exome.
Exome sequencing usually consists of two steps - the first step is to select only the subset of DNA that encodes proteins (exons); the second step is to sequence the selected DNA - using DNA sequencing technology

5 Facts you should know

FACT

Humans have about 180,000 exons, constituting about 1% of the human genome

FACT

The goal of exome sequencing is to identify genetic variants that alter protein sequences

FACT

Exome sequencing is only able to identify those variants found in the coding region of genes which affect protein function

FACT

Exome sequencing can help identify novel genes by comparing exomes from patients with similar features

FACT

Exome sequencing is especially effective in the study of rare Mendelian diseases, because it is an efficient way to identify the genetic variants in all of an individual's genes

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