A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility

Carrier screening for certain diseases is recommended by major medical and Ashkenazi Jewish (AJ) societies. Most carrier screening panels test only for common, ethnic-specific variants. However, with formerly isolated ethnic groups becoming increasingly intermixed, this approach is becoming inadequa...

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Detalles Bibliográficos
Autores principales: Perreault-Micale, Cynthia, Davie, Jocelyn, Breton, Benjamin, Hallam, Stephanie, Greger, Valerie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521971/
https://www.ncbi.nlm.nih.gov/pubmed/26247052
http://dx.doi.org/10.1002/mgg3.148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521971/
https://www.ncbi.nlm.nih.gov/pubmed/26247052
http://dx.doi.org/10.1002/mgg3.148

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