Article
Similar burden of pathogenic coding variants in exceptionally long-lived individuals and individuals without exceptional longevity.
Aging cell - 1 Oct 2020
Gutman Danielle, Lidzbarsky Gabriel, Milman Sofiya, Gao Tina, Sin-Chan Patrick, Gonzaga-Jauregui Claudia, Deelen Joris, Shuldiner Alan R, Barzilai Nir, Atzmon Gil
Abstract excerpt
Centenarians (exceptionally long-lived individuals-ELLI) are a unique segment of the population, exhibiting long human lifespan and healthspan, despite generally practicing similar lifestyle habits as their peers. We tested disease-associated mutation burden in ELLI genomes by determining the burden of pathogenic variants reported in the ClinVar and HGMD databases using data from whole exome sequencing (WES)...
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