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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Dades bibliogràfiques
Publicat a:Circ Genom Precis Med
Autors principals: 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
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2020
Matèries:
Original Articles
Accés en línia: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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