Title: Genome sequencing: a revolutionary approach to disease gene finding and clinical
diagnosis
Abstract:
The advances in next generating sequencing (NGS) make it feasible to cost-effectively uncover
genetic variation on a large scale. Whole genome or exome sequencing is replacing traditional
technologies to quickly become the standard approach to human genetic studies. In this talk I
will describe the recent development of sequencing technologies and analysis methods, the
strategies used to identify genetic variants associated with human diseases via sequencing, and
the clinical application of NGS on genetic testing and diagnosis of rare diseases. I will also
discuss various challenges in NGS and its potential to have a broader impact on human genetics
and health.
Topics:
1. Next generation sequencing technologies and data processing
2. Identifying genetic variants for human diseases via sequencing
3. Clinical application of sequencing on genetic testing of diagnosis
Goals:
1. Introducing next generation sequencing and standard pipelines to analyze sequencing data
2. Describing current strategies and analysis methods for mapping genes for both Mendelian and
complex diseases
3. Giving examples on how sequencing can be used in clinic for genetic testing and pinpointing
causal mutations of rare diseases
Intended Audience:
Researchers and clinicians working on human diseases with an interest of finding genes that
cause the disease
Speaker Description:
Bingshan Li, Ph.D., is an Assistant Professor of Molecular Physiology and Biophysics, an
Investigator of the Center for Human Genetic Research, and a Member of the Center for
Quantitative Sciences. He obtained his Ph.D. in statistical genetics at Baylor College of Medicine
and did his postdoc training at the University of Michigan. His research focuses on developing
statistical methods and computational tools for identifying genetic factors associated with human
diseases. He pioneered the statistical methods for rare variant association analysis for complex
traits. His current research is focused on sequencing methodology development for genetic
studies.