Rare Psychiatry News
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5 Facts you should know about
Exome sequencing
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