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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Bibliografski detalji
Izdano u:Circ Genom Precis Med
Glavni autori: 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
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2020
Teme:
Original Articles
Online pristup: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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