Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions

Clinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions for which they aim to identify carriers. We applie...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, Mar‐Heyming, Rebecca, Buckley, Bethany, Moyer, Krista
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7496796/
https://ncbi.nlm.nih.gov/pubmed/32383249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24033
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