Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

Title
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Authors
Keywords
genotyping, rare variant, SNP-chip, pathogenicity, penetrance, biobank, genetic, variant
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2019-01-19
DOI
10.1016/j.ajhg.2018.12.015

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