ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

BACKGROUND: The success of the clinical use of sequencing based tests (from single gene to genomes) depends on the accuracy and consistency of variant interpretation. Aiming to improve the interpretation process through practice guidelines, the American College of Medical Genetics and Genomics (ACMG...

Descripción completa

Detalles Bibliográficos
Autores principales: Patel, Ronak Y., Shah, Neethu, Jackson, Andrew R., Ghosh, Rajarshi, Pawliczek, Piotr, Paithankar, Sameer, Baker, Aaron, Riehle, Kevin, Chen, Hailin, Milosavljevic, Sofia, Bizon, Chris, Rynearson, Shawn, Nelson, Tristan, Jarvik, Gail P., Rehm, Heidi L., Harrison, Steven M., Azzariti, Danielle, Powell, Bradford, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5228115/
https://www.ncbi.nlm.nih.gov/pubmed/28081714
http://dx.doi.org/10.1186/s13073-016-0391-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5228115/
https://www.ncbi.nlm.nih.gov/pubmed/28081714
http://dx.doi.org/10.1186/s13073-016-0391-z

Ejemplares similares