ClinGen Linked Data Hub: a scalable infrastructure to support variant pathogenicity assessment by modeling and linking diverse types of evidence about variants using the GA4GH Variant Annotation standards
Sai Lakshmi Subramanian1, Andrew R. Jackson1, Neethu Shah1, Kevin Riehle1, Deborah. I. Ritter1,2, Christine Preston3, Matt W. Wright3, Matthew Brush4, Larry Babb5, Carlos D. Bustamante3, Sharon E. Plon1,2, Aleksandar Milosavljevic1, on behalf of the Clinical Genome Resource
1Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX;
2Department of Pediatrics, Baylor College of Medicine, Houston, TX;
3Department of Pathology, Stanford University School of Medicine, Stanford, CA;
4Oregon Health and Science University, Portland, OR;
5Broad Institute, Cambridge, MA
