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Article

Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2021

Camp Sabrina Y, Kofman Eric, Reardon Brendan, Moore Nathanael D, Al-Rubaish Abdullah M, Aljumaan Mohammed, Al-Ali Amein K, Van Allen Eliezer M, Taylor-Weiner Amaro, AlDubayan Saud H

Abstract excerpt

PURPOSE: Cohort-based germline variant characterization is the standard approach for pathogenic variant discovery in clinical and research samples. However, the impact of cohort size on the molecular diagnostic yield of joint genotyping is largely unknown. METHODS: Head-to-head comparison of the molecular diagnostic yield of joint genotyping in two cohorts of 239 cancer patients in the absence and then in the...

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PMID: 33531667
DOI: 10.1038/s41436-020-01074-w
PMCID: PMC8720416

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