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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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| Udgivet i: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
John Wiley & Sons, Ltd
2015
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| Fag: | |
| Online adgang: | 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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