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

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

Abstract Background Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear. Methods We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in 3015 participants from 485 families i...

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Bibliographic Details
Main Authors: Paige Carlson, Mary K. Wojczynski, Todd Druley, Joseph H. Lee, Joseph M. Zmuda, Bharat Thyagarajan
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Medical Genomics
Subjects:
Incidental genetic findings
Long lived families
Population studies
Pathogenic variants
Online Access:http://link.springer.com/article/10.1186/s12920-020-0710-5

Internet

http://link.springer.com/article/10.1186/s12920-020-0710-5

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