Interpreting Variants from Human Genome, Exome and Targeted Panel Sequencing: A Rapid, Point-and-Click Approach
Presented by: David Dailey, PhD, NGS Specialist, Ingenuity Systems
Time and place: Tuesday, November 5, 11 a.m. to noon.
Peter Gilgan Centre for Research and Learning, 686 Bay Street, Toronto, 2nd Floor, Room 02-9230
Note: this is in the new Sickkids Research Institute Building at 686 Bay St. The room is on the second floor and is accessible to the public. All are welcome to attend.
Abstract: Classification and prioritization of variants is challenging, not just because of the number and uniqueness of variants of potential interest, but also due to the wide range of information sources useful to the prioritization process. Ingenuity's software aims to bring together information on variant and gene function, pathways, processes and disease models within an intuitive system that enables investigators and clinical researchers to ask many questions of their data and see the results in seconds, with direct access to the supporting findings to guide decisions on which variants to carry forward. Examples pertinent to rare disease, germ line and somatic cancer, will be presented.