Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

BACKGROUND: Advances in sequencing technology have led to expanded use of multi‐gene panel tests (MGPTs) for clinical diagnostics. Well‐designed MGPTs must balance increased detection of clinically significant findings while mitigating the increase in variants of uncertain significance (VUS). To max...

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Detalles Bibliográficos
Autores principales: Zion, Tricia N., Wayburn, Bess, Darabi, Sourat, Lamb Thrush, Devon, Smith, Erica D., Johnston, Tami, Martin, Brissa, Hagman, Kelly D. F., Parra, Melissa, Antolik, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503028/
https://www.ncbi.nlm.nih.gov/pubmed/30900393
http://dx.doi.org/10.1002/mgg3.630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503028/
https://www.ncbi.nlm.nih.gov/pubmed/30900393
http://dx.doi.org/10.1002/mgg3.630

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