Reducing Sanger confirmation testing through false positive prediction algorithms

PURPOSE: Clinical genome sequencing (cGS) followed by orthogonal confirmatory testing is standard practice. While orthogonal testing significantly improves specificity, it also results in increased turnaround time and cost of testing. The purpose of this study is to evaluate machine learning models...

Descripción completa

Detalles Bibliográficos
Autores principales: Holt, James M., Kelly, Melissa, Sundlof, Brett, Nakouzi, Ghunwa, Bick, David, Lyon, Elaine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257489/
https://www.ncbi.nlm.nih.gov/pubmed/33767343
http://dx.doi.org/10.1038/s41436-021-01148-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257489/
https://www.ncbi.nlm.nih.gov/pubmed/33767343
http://dx.doi.org/10.1038/s41436-021-01148-3

Ejemplares similares