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Article

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022

Zouk Hana, Yu Wanfeng, Oza Andrea, Hawley Megan, Vijay Kumar Prathik K, Koch Christopher, Mahanta Lisa M, Harley John B, Jarvik Gail P, Karlson Elizabeth W, Leppig Kathleen A, Myers Melanie F, Prows Cynthia A, Williams Marc S, Weiss Scott T, Lebo Matthew S, Rehm Heidi L

Abstract excerpt

PURPOSE: The clinical genomics knowledgebase is dynamic with variant classifications changing as newly identified cases, additional population data, and other evidence become available. This is a challenge for the clinical laboratory because of limited resource availability for variant reassessment. METHODS: Throughout the Electronic Medical Records and Genomics phase III program, clinical sites associated with...

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PMID: 34906510
DOI: 10.1016/j.gim.2021.10.010
PMCID: PMC10128874

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