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...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
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Software
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5228115/
https://ncbi.nlm.nih.gov/pubmed/28081714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0391-z
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