Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

Authors: Caroline F. Wright, Luke N. Sharp, Leigh Jackson, Anna Murray, James S. Ware, Daniel G. MacArthur, Heidi L. Rehm, Kashyap A. Patel, Michael N. Weedon

Published: 2024-07-29

DOI: 10.1038/s41588-024-01842-3

Source: Full article

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Abstract

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