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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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Perreault-Micale, Cynthia, Davie, Jocelyn, Breton, Benjamin, Hallam, Stephanie, Greger, Valerie
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley & Sons, Ltd 2015
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521971/
https://ncbi.nlm.nih.gov/pubmed/26247052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.148
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