Prevalence of clinically actionable disease variants in exceptionally long-lived families.

Paige CarlsonMary K WojczynskiTodd DruleyJoseph H LeeJoseph M ZmudaBharat Thygarajan

Published in: BMC medical genomics (2020)

Further research is needed to better understand the penetrance of pathogenic variants before expanding large scale genomic testing to asymptomatic individuals.

Keyphrases

copy number
risk factors
genome wide
gene expression