Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

ABSTRACT:

Background

Genetic variation databases provide invaluable information on the presence and frequency of genetic variants in the 'untargeted' human population, aggregated with the primary goal to facilitate the interpretation of clinically important variants. The presence of somatic variants in such databases can affect variant assessment in undiagnosed rare disease (RD) patients. Previously, the impact of somatic mosaicism was only considered in relation to two Mendelian disease-associated genes. Here, we expand the analyses to identify additional mosaicism-prone genes in blood-derived reference population databases.

Results

To identify additional mosaicism-prone genes relevant to RDs, we focused on known/previously established ClinVar pathogenic and likely pathogenic single-

SUBMITTER: Avramovic V 

PROVIDER: S-EPMC8670043 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature