Ecosyste.ms: Papers

An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.

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 7 years ago

Software Mentions 3

bioconductor: myvariant
Accesses MyVariant.info variant query and annotation services
Papers that mentioned: 3
pypi: Calculator
Performs basic calculation operations
Papers that mentioned: 478
pypi: myvariant
Python Client for MyVariant.Info services.
Papers that mentioned: 3