KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine

In population-based research exome sequencing, the path from variant discovery to return of results is not well established. Variants discovered by research exome sequencing have the potential to improve population health. METHODS: Population-based exome sequencing and agnostic ExWAS were performed...

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Bibliografiske detaljer
Udgivet i:Circ Genom Precis Med
Main Authors: Streeten, Elizabeth A., See, Vincent Y., Jeng, Linda B.J., Maloney, Kristin A., Lynch, Megan, Glazer, Andrew M., Yang, Tao, Roden, Dan, Pollin, Toni I., Daue, Melanie, Ryan, Kathleen A., Van Hout, Cristopher, Gosalia, Nehal, Gonzaga-Jauregui, Claudia, Economides, Aris, Perry, James A., O’Connell, Jeffrey, Beitelshees, Amber, Palmer, Kathleen, Mitchell, Braxton D., Shuldiner, Alan R
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2020
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7748050/
https://ncbi.nlm.nih.gov/pubmed/33141630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.120.003133
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