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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

PURPOSE: Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a patient’s self-reported ethnicity. Ethnicity, which can reflect both genetic ancestry and cultural factors (e.g., religion), may be...

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Detalles Bibliográficos
Autores principales: Kaseniit, Kristjan E., Haque, Imran S., Goldberg, James D., Shulman, Lee P., Muzzey, Dale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521993/
https://www.ncbi.nlm.nih.gov/pubmed/32595206
http://dx.doi.org/10.1038/s41436-020-0869-3