UCSC Biomedical Evidence Graph Demonstration
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Abstract
The BMEG demonstration includes the following elements: 1) Organization of crowd-source challenges to develop best-of-breed methods including an overview of current DREAM projects, living benchmarks; 2) Enabling cloud-ready methods for mass compute with examples of recently developed alignments and somatic variant detectors; 3) Establishment of methods to link genetic variants to cellular-, tissue-, and patient-level outcomes with a description of the GA4GH Genotype-to-Phenotype API; 4) Creation of a searchable graph of evidence from abstracted evidence and inferences, with an example of the TumorMap visualization tool to view tumor samples across cancer types.
Credits
Kyle Ellrott, UCSC
Josh Stuart, UCSC
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