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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496796/
https://www.ncbi.nlm.nih.gov/pubmed/32383249
http://dx.doi.org/10.1002/humu.24033