Cold Spring Harbor – Biology of Genome

Ingenuity System Workshop at Biology of Genomes

Interpreting Human Genomes on the Ingenuity Variant Analysis Platform

Speakers: Nathaniel Pearson, PhD, Principal Genome Scientist, Ingenuity, Redwood City, CA, USA and Christopher E. Mason, PhD, Assistant Professor, Physiology and Biophysics, Institute for Computational Biomedicine, Weill Cornell College

May 8, 2013 at 12:30 PM Plimpton Conference Room Beckman Building

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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.

This workshop will introduce how Ingenuity Variant Analysis helps researchers interpret genome data through customer use cases. You will leave with basic knowledge of the platform, and the ability to analyze your own variant data files.

Learn more about Cold Spring Harbor – Biology of Genome

The 2013 meeting will address DNA sequence variation and its role in molecular evolution, population genetics and complex diseases, comparative genomics, large-scale studies of gene and protein expression, and genomic approaches to ecological systems. Both technologies and applications will be emphasized. In addition there will be a special session on the ethical, legal and social implications of genome research.