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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Vydáno v:Genome Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
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On-line přístup: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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