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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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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Perreault-Micale, Cynthia, Davie, Jocelyn, Breton, Benjamin, Hallam, Stephanie, Greger, Valerie
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Ltd 2015
Teme:
Online dostop: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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