Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

ABSTRACT: High-throughput DNA sequencing provides not only primary diagnosis but also makes available other genetic variants with potential health implications. the American College of Medical Genetics and Genomics (ACMG) has recommended a list of medically actionable genes since 2013 and very recently released an updated ACMG SF v3.0 list comprising 73 genes. Here, we analyzed exome data of 1559 unrelated Thai individuals to determine the frequency and spectrum of pathogenic (P) or likely pathogenic (LP) variants in the 73 genes. Based on the ACMG guidelines for the interpretation of sequence variants, 68 different P/LP variants in 26 genes associated with 18 diseases inherited in an autosomal-dominant manner of 186 individuals (11.9%; 186/1559) were identified. Of these, 22 P/LP variants in 15 gen

SUBMITTER: Chetruengchai W 

PROVIDER: S-EPMC9022721 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature