Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

Rare genetic disorders, while individually rare, are collectively common. They represent some of the most severe disorders affecting patients worldwide with significant morbidity and mortality. Over the last decade, advances in genomic methods have significantly uplifted diagnostic rates for patient...

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Bibliographic Details
Main Authors: Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell-Luria
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.674295/full