Systematic design and comparison of expanded carrier screening panels

PURPOSE: The recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choi...

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Vydáno v:Genet Med
Hlavní autoři: Beauchamp, Kyle A, Muzzey, Dale, Wong, Kenny K, Hogan, Gregory J, Karimi, Kambiz, Candille, Sophie I, Mehta, Nikita, Mar-Heyming, Rebecca, Kaseniit, K Eerik, Kang, H Peter, Evans, Eric A, Goldberg, James D, Lazarin, Gabriel A, Haque, Imran S
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2018
Témata:
Original Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5763154/
https://ncbi.nlm.nih.gov/pubmed/28640244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.69
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