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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書目詳細資料
Main Authors: Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell-Luria
格式: Article
語言:English
出版: Frontiers Media S.A. 2021-06-01
叢編:Frontiers in Genetics
主題:
在線閱讀:https://www.frontiersin.org/articles/10.3389/fgene.2021.674295/full