Twenty-four new variants discovered, each conferring more than a 2-fold risk of developing ASD

Date: January 29, 2013, Noon EST, 90 minutes

Presenters:
Dr. Hakon Hakonarson, Director of the Center for Applied Genomics, Children’s Hospital of Philadelphia
Dr. Mark F. Leppert, Professor of Human Genetics at the University of Utah and Chief Science Advisor at Lineagen
Dr. Michael Paul, President and CEO at Lineagen
Dr. Charles Hensel, Senior Research Manager at Lineagen
Dr. Bryce Christensen, Director of Services at Golden Helix
Facilitated by: Dr. Christophe Lambert, CEO at Golden Helix

Abstract:
A growing body of evidence suggests a genetic contribution in the development of autism spectrum disorders (ASD). Since 2002, Lineagen has been building the largest proprietary collection of ASD-related genetic variants and, in 2011, spearheaded a study to increase the clinical yield of the company’s genetic diagnostic test, FirstStepDx. To find candidate variants, Linegean selected the Children’s Hospital of Philadelphia Center for Applied Genomics and Golden Helix. The results of this study were recently published in PLoS ONE: “Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and their Prevalence in a Large ASD Population.”

In this 90-minute webcast, Dr. Hakonarson, Dr. Leppert, Dr. Paul, and Dr. Hensel will outline the study and methodology approach utilized by Lineagen to achieve a two-fold increase in detection rate of genetic variants in individuals with ASD, and Dr. Christensen will share the analytic processes Golden Helix used in this valuable research.