Article
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Human genomics - 14 Dec 2021
Avramović Vladimir, Frederiksen Simona Denise, Brkić Marjana, Tarailo-Graovac Maja
Abstract excerpt
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...
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