A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

Orthogonal confirmation of next-generation sequencing (NGS)-detected germline variants is standard practice, although published studies have suggested that confirmation of the highest-quality calls may not always be necessary. The key question is how laboratories can establish criteria that consiste...

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Detalles Bibliográficos
Autores principales: Lincoln, Stephen E., Truty, Rebecca, Lin, Chiao-Feng, Zook, Justin M., Paul, Joshua, Ramey, Vincent H., Salit, Marc, Rehm, Heidi L., Nussbaum, Robert L., Lebo, Matthew S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Investigative Pathology 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629256/
https://www.ncbi.nlm.nih.gov/pubmed/30610921
http://dx.doi.org/10.1016/j.jmoldx.2018.10.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629256/
https://www.ncbi.nlm.nih.gov/pubmed/30610921
http://dx.doi.org/10.1016/j.jmoldx.2018.10.009

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