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Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts (2024)

First Author: Wright C

Attributed to: Assessing the pathogenicity, penetrance and expressivity of monogenic disease variants using large-scale population-based cohorts funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1038/s41588-024-01842-3

Publication URI: http://dx.doi.org/10.1038/s41588-024-01842-3

Type: Journal Article/Review

Parent Publication: Nature Genetics

Issue: 9