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.
Kyle Ellrott, UCSC
Josh Stuart, UCSC
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