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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Detalles Bibliográficos
Autores principales: Kaseniit, Kristjan E., Collins, Elizabeth, Lo, Christine, Moyer, Krista, Mar‐Heyming, Rebecca, Kang, Hyunseok P., Muzzey, Dale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852020/
https://www.ncbi.nlm.nih.gov/pubmed/31170325
http://dx.doi.org/10.1111/cge.13582

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852020/
https://www.ncbi.nlm.nih.gov/pubmed/31170325
http://dx.doi.org/10.1111/cge.13582

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