Articles with "novel mendelian" as a keyword



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Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

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Published in 2021 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2021.674295

Abstract: 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… read more here.

Keywords: clinical outcomes; improved clinical; novel mendelian; gene ... See more keywords