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5 Facts you should know about

Exome sequencing

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1

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

2

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

3

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

4

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

5

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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