Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

ABSTRACT: In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. However, there is a lack of epidemiological data on medically actionable rare variants in these genes in Arab populations. We used whole genome sequencing data from 6045 participants from the Qatar Genome Programme and integrated it with phenotypic data collected by the Qatar Biobank. We identified novel putative pathogenic variants in the 59 ACMG genes by filtering previously unrecorded variants based on computational prediction of pathogenicity, variant rarity and segregation evidence. We assessed the phenotypic associations of candidate variants in genes

SUBMITTER: Elfatih A 

PROVIDER: S-EPMC9402234 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature