Development and application of a computable genotype model in the GA4GH Variation Representation Specification
Wesley Goar, Lawrence J. Babb, Srikar Chamala, Melissa Cline, Robert R. Freimuth, Reece K. Hart, Kori Kuzma, Jennifer Lee, Tristan H. Nelson, Andreas Prlić, Kevin P. Riehle, Anastasia L. Smith, Kathryn Stahl, Andrew D. Yates, Heidi L. Rehm, Alex Handler Wagner
The paper develops and applies a computable genotype model within the GA4GH Variation Representation Specification to enable precise and interoperable representation of genomic variation data.
Pacific Symposium on Biocomputing (PSB) · Nov 1, 2022Peer-reviewedBioinformatics