Papers: 10.1186/s13073-016-0391-z
https://doi.org/10.1186/s13073-016-0391-z
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Cited by: 50
Author(s): Ronak Y. Patel, Neethu Shah, Andrew Jackson, Rajarshi Ghosh, Piotr Pawliczek, Sameer Paithankar, Aaron Baker, Kevin Riehle, Hailin Chen, Sofia Milosavljevic, Chris Bizon, Shawn Rynearson, Tristan Nelson, Gail P. Jarvik, Heidi L. Rehm, Steven M. Harrison, Danielle R. Azzariti, Bradford C. Powell, Larry Babb, Sharon E. Plon, Aleksandar Milosavljevic
Published: over 8 years ago
Software Mentions 3
bioconductor: myvariant
Accesses MyVariant.info variant query and annotation servicesPapers that mentioned: 3
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