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Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher

2021-10-26

Abstract excerpt

Clinical and research laboratories extensively use exome sequencing due to its high diagnostic rates, cost savings, impact on clinical management, and efficacy for disease gene discovery. While the rates of disease gene discovery have steadily increased, only ~16% of genes in the genome have confirmed disease associations. Here we describe our diagnostic laboratory’s disease gene discovery and ongoing data-sharing...

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Literature Corpus work: 978eedae-3444-5886-acac-68e3476339c7
DOI: 10.22541/au.163525464.45652180/v1

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