Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening

Expanded carrier screening (ECS) panels that use next‐generation sequencing aim to identify pathogenic variants in coding and clinically relevant non‐coding regions of hundreds of genes, each associated with a serious recessive condition. ECS has established analytical validity and clinical utility,...

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Опубликовано в: :Clin Genet
Главные авторы: Kaseniit, Kristjan E., Collins, Elizabeth, Lo, Christine, Moyer, Krista, Mar‐Heyming, Rebecca, Kang, Hyunseok P., Muzzey, Dale
Формат: Artigo
Язык:Inglês
Опубликовано: Blackwell Publishing Ltd 2019
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852020/
https://ncbi.nlm.nih.gov/pubmed/31170325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13582
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