(대학원생 마일리지 적용) 학과 세미나 안내 (8/20(화), UCLA 설재훈 교수)
산업및시스템공학과 세미나가 다음과 같이 진행될 예정입니다.
1. 일시및장소 : 8/20(화) 오후 4시, 산업경영학동(E2-2) 멀티미디어교육실 2501호
2. 주제 : Rare Variant Analysis for Extended Pedigrees and its Application to Severe Bipolar Disorder
3. 연사 : 설재훈 교수(UCLA)
4. 언어: 한국어
김 민 경 드림
Rare Variant Analysis for Extended Pedigrees and its Application to Severe Bipolar Disorder
Jae Hoon Sul
Department of Psychiatry and Biobehavioral Sciences at UCLA
Recently, multiple studies have performed whole exome or whole genome sequencing to identify groups of rare variants associated with complex traits and diseases. They utilized primarily case-control study designs that often require thousands of individuals to reach acceptable statistical power. Family-based studies may be more powerful, because a rare variant may be enriched in an extended pedigree and segregate with the phenotype. In this talk, I will discuss two projects related to identifying effect of rare variants in extended pedigrees. The first project is to develop a general and powerful approach called RareIBD to identify rare variants involved in disease susceptibility. A series of simulation experiments suggested that RareIBD is a powerful test that outperforms existing approaches. We apply RareIBD as well as other methods to two extended family datasets generated using different genotyping technologies and representing different ethnicities. The second project is to elucidate the genetic architecture of bipolar disorder in extended pedigrees from Colombia and Costa Rica. We conducted genetic analyses using microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We found that compared to unaffected relatives, BP1 individuals had higher polygenic risk scores estimated from BP1 GWAS statistics and displayed higher burdens of rare deleterious SNVs and rare CNVs in genes related to BP1. We observed no significant segregation pattern for rare variants. These results suggest that small to moderate effect rare and common variants contribute to BP1 risk in extended pedigrees.
I am an Assistant Professor in the Department of Psychiatry and Biobehavioral Sciences at UCLA. I am also affiliated with Bioinformatics and Genetics and Genomics Interdepartmental Graduate Programs. I received my Ph.D. in the computer science department at UCLA and postdoctoral training at Harvard Medical School. During my pre- and postdoctoral career, I have received considerable training and carried out extensive research in the fields of computational and statistical genetics. I have developed several statistical approaches for large-scale genetic and genomic data such as methods to correct for population structure in human genome-wide association studies (GWAS), methods to identify associations of rare variants from sequencing data, and methods to analyze expression quantitative trait loci (eQTL) data effectively. In addition to the method development, I have considerable experience in statistical genetics for analyzing large-scale genetic and genomic data in collaboration with many researchers. I was part of analysis working group that analyzed microarray genomic data of more than 8,000 individuals in the Minnesota Center for Twin and Family Research, which became part of GWAS of more than 120,000 individuals studying educational attainment. I also analyzed large GWAS data for Tourette Syndrome where we analyzed genetic data of nearly 15,000 individuals. I am part of analysis working group in the Genotype-Tissue Expression (GTEx) program, which is a NIH-funded large consortium studying roles of genetic variants in gene expression in multiple human tissues.