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Estimating diagnostic noise in panel-based genomic analysis (2022)

First Author: Beaumont R

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/10.1016/j.gim.2022.06.008

PubMed Identifier: 35920826

Publication URI: http://europepmc.org/abstract/MED/35920826

Type: Journal Article/Review

Parent Publication: Genetics in Medicine

Issue: 10

ISSN: 1098-3600