报告题目：Interpreting Newborn Genomes

报  告 人: Steven Brenner, Professor UC Berkeley

报告时间: 4月18日 2:00

报告地点:闵行校区生物药学楼树华多功能厅

联  系 人:吕晖 ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it. )

 

摘要

This presentation will introduce our current approaches and research in interpreting genomes, especially of newborns for rare disease.  We developed an analysis protocol for individual genome interpretation and used its distinctive features to diagnose numerous clinical cases. We applied the protocol to exomes from newborn patients with undiagnosed primary immune disorders. To yield high quality sets of possible causative variants, we used multiple callers with multi-sample calling and integrated variant annotation, variant filtering, and gene prioritization.

 

报告人简介

Steven E. Brenner is a Professor at the University of California, Berkeley. He received his Ph.D. from the University of Cambridge. Brenner’s research is primarily in the area of computational genomics, covering topics in protein structure, RNA regulation, function prediction, metagenomics, and individual genome interpretation. He has more than 100 papers in journals including Nature and Science. He is the founding chair of the Computational Biology graduate program at Berkeley. He is also currently a director of the Human Genome Variation Society and is a founding editor of PLoS Computational Biology. His recognitions including being a Miller Professor, a Sloan Research Fellow, a Searle Scholar, an AAAS Fellow, an ISCB Fellow, and the recipient of ISCB’s Overton Prize.