NGS Bioinformatics at Stanford Center for Genomics & Personalized Medicine

Monday, April 1, 2013 from 1:00 PM to 5:00 PM (PDT)

Stanford, CA

Register and view full agenda here: 

Interpreting Human Genomes on the Ingenuity Variant Analysis Platform

  • SpeakerNathaniel Pearson, PhD, Principal Genome Scientist,Ingenuity, Redwood City, CA, USA
  • Time: 3:30 – 4:15 pm
  • Abstract: Genomic studies of human disease and drug response aim to find one or a few culprit variants among millions of possible suspects.  Tools to quickly and reliably shortlist such variants, and the genes and pathways in which they may cluster, can save months of tedious effort, speeding crucial insights. To that end, the Ingenuity® Variant Analysis platform lets users quickly upload, thoroughly annotate, and sensibly compare whole or partial human genomes, to smartly shortlist candidate variants, genes, and pathways that plausibly explain studied phenotype(s). Leveraging Ingenuity’s deep, structured knowledge base for functional insight, Variant Analysis runs robust tests of family- and population-scale genetic association, tailored to users’ study designs and focal phenotypes, via an intuitive interface ready for easily reviewing and revising findings. And by letting users securely share genome data and findings, the platform can broker collaborative discovery among researchers studying similar or (as mutual controls) distinct rare diseases. Featuring user data aligned and called by Real Time Genomics, this talk will exemplify how Ingenuity Variant Analysis helps Stanford researchers interpret studies of one or multiple probands or kindreds, matched tumor genomes, and big case-control cohorts, in order to understand rare inborn diseases, common complex disease, cancers, and drug response.