Article

Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed

2019-05-27

Abstract excerpt

In an unselected population of 23,713 participants who underwent clinical exome sequencing as a part of the Healthy Nevada Project (HNP) in Northern Nevada (Renown Health, Reno, Nevada) from March 15, 2018, to Sept 30, 2018 (Table S1) we find a 1.26% carrier rate for expected pathogenic and likely pathogenic genetic variants in (FH: LDLR, PCSK9, APOB ), Hereditary Breast and Ovarian Cancer (HBOC: BRCA1, BRCA2 )...

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Literature Corpus work: 2f7a4b3d-018d-505d-9296-a872621c461e
DOI: 10.1101/650549

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