The Empowered Whole Genome Cohort: Shareable Joint Genome Interpretation for Research and Personal Insight. N. M. Pearson, J. Deschenes, C. Palm, D. Richards, D. Bassett Ingenuity Systems, Redwood City, CA.
A single human genome, studied alone, rarely sheds clear light on its carriers health. But comparing many genomes, in the context of phenotypic variation, promises to ultimately refine diagnostic and prognostic care worldwide. Thus healthy peoples genomes, especially, are for now most informative when pooled for mutual and broader benefit. Well-sequenced people may thus wish to share their genomes, in order to make them personally and societally useful -- yet few such people can even access their own data, or that of others, with (or even without) the computational resources to make sense of it. To help remedy this, we invited whole-genome sequencees from Illuminas Understand Your Genome program to establish free accounts on a HIPAA- and Safe Harbor-compliant platform for interpreting comprehensively sequenced human genomes (Ingenuity Variant Analysis), where each sequencee can upload, annotate, and query her/his own genome about any phenotype, via a well-curated biological knowledge base that augments Illuminas 344-gene clinically focused annotation. More importantly, the Variant Analysis platform lets sharing-minded sequencees pool and sensibly compare their genomes, using functionally-informed small- or large-sample-appropriate tests of rare or/and common variant association, to better understand phenotypic differences among cohort members (as well as statistical methods and challenges of such study). Together, sequencees can jointly publish relevant analyses for open review, and -- most usefully -- can offer their genomes (with ancillary data, as willing) to researchers who need well-phenotyped controls (or cases) for disease studies. Here we report early feedback from, and findings by, this pioneering participatory whole genome cohort. Relevant insights will refine further collaborative efforts among citizen-scientist data donors and professional researchers -- and may, more strikingly, spark direct biomedical discoveries in their own right.
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