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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: Perreault-Micale, Cynthia, Davie, Jocelyn, Breton, Benjamin, Hallam, Stephanie, Greger, Valerie
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley & Sons, Ltd 2015
Aiheet:
Linkit: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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