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

      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 (BioMed Central, 2017)
      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 ...