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Article

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Science translational medicine - 9 Nov 2016

Natarajan Pradeep, Gold Nina B, Bick Alexander G, McLaughlin Heather, Kraft Peter, Rehm Heidi L, Peloso Gina M, Wilson James G, Correa Adolfo, Seidman Jonathan G, Seidman Christine E, Kathiresan Sekar, Green Robert C

Abstract excerpt

In populations that have not been selected for family history of disease, it is unclear how commonly pathogenic variants (PVs) in disease-associated genes for rare Mendelian conditions are found and how often they are associated with clinical features of these conditions. We conducted independent, prospective analyses of participants in two community-based epidemiological studies to test the hypothesis that...

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Identifiers

PMID: 27831900
DOI: 10.1126/scitranslmed.aag2367
PMCID: PMC5823271

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