ISCB-Asia/SCCG 2012 Technical Track Presentation

Dr. Frank Schacherer
CTO, BIOBASE GmbH, Wolfenbüttel, Germany

Genome Trax: whole exome variant analysis for medical research

Abstract

Interpretation of human whole genome sequence data is emerging as the fundamental bioinformatics challenge of the 21st century. We describe Genome Trax and HGMD, essential annotation sources for identifying disease-related variants and for understanding the effect of variants in a medical context, and show how relevant variants can be discovered in a sample patient.

Biography

Dr. Frank Schacherer obtained his Ph.D. in bioinformatics from Technical University of Braunschweig in 2000. He joined BIOBASE in 2005 after work as a software consultant and bioinformatician. At BIOBASE, he headed the US and Indian offices prior to his current position as Chief Technical Officer and managing director. He is responsible for BIOBASE's high quality manually curated databases, including TRANSFAC®, PROTEOME™, and HGMD®. He also leads the development of novel data analysis solutions such as Genome Trax™ for NGS variant analysis, and scientific research collaborations.