ClinGen Pathogenicity Calculator: a Configurable System for Assessing Pathogenicity of Genetic Variants.

Ronak Y. Patel,Neethu Shah,Andrew R. 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 Azzariti,Bradford Powell,Larry Babb,Sharon E. Plon,Aleksandar Milosavljevic, on behalf of the ClinGen Resource

Genome Medicine（2017）

Cited 54|Views5

Key words

Genome sequencing,Exome sequencing,Clinical genome sequencing,Clinical exome sequencing,ACMG guidelines,ClinVar,ClinGen,Clinical Genome Resource,Knowledge commons,Data commons,Data sharing,Linked Data,Big Data

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