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Feeding the Precision Health Genetics Pipeline: Specimen Acquisition to Data Storage at UCLA
October 17, 2019 @ 1:00 pm - 2:00 pm CDT
Christopher Denny, MD, UCLA Health. The UCLA Institute of Precision Health is currently engaged in an effort to genotype 50,000 patients each year for the next three years. To accrue sufficient patient specimens, a workflow consisting of electronic universal consent followed by retrieval of remnant blood specimens, has been created. Genotype data are processed into vcf (variant call format) files and then stored as a sparse array in GenomicsDB, an open source non-relational database developed for this purpose. Dr. Denny will share the processes they have developed to date, as well as insights and learnings that will shape future development of this initiative.