생물정보학 세미나 공지

 

 

서울대학교 생물정보연구소와 생물정보학 협동과정 공동 주최로 특별 세미나를 아래와 같이 열고자 하오니, 많은 참여 바랍니다.

 

일시: 2012. 8. 30.(목) 11:00

연사: Sung Chun (Brigham and Women's Hospital)

장소: 25동 411호

 

 

          

           Title: Identification of Deleterious and Disease Alleles in a General Population and Preterm Labor Patients

Each human carries a large number of deleterious genetic variants that make a significant contribution to genetic disorders. Recently, several studies have demonstrated that personal genomes can be comprehensively screened for deleterious variants using comparative genomics. In this study, we explore the genome-wide landscape of deleterious variants in a general population and examine whether recent human adaption has influenced the distribution of deleterious polymorphism within the human genome. Deleterious variants were predicted applying a site-specific likelihood ratio test of significant conservation based on multiple sequence alignments of 32 vertebrate species. Consistent with the hitchhiking model, we find that the ratio of deleterious to neutral amino acid polymorphism is higher in genomic regions that have experienced adaptation in recent human history. The number of common, disease-associated alleles is also elevated in these hitchhiking regions. In the second part of the talk, taking FSH receptor based on sequence conservation across placental mammals and then sequenced in preterm and term Finnish mothers utilizing next-generation sequencing technology. By fine-mapping and transcription factor binding site analysis, candidate causal variants were narrowed down to two single nucleotide polymorphisms predicted to be bound by transcription factors differentially regulated during pregnancy. Our results suggest that comparative genomics can be a useful tool for studying natural selection and disease association at a fine resolution.

 

 

Bio

Education:

2006-2012 Washington University in St.Louis,Missouri

PhD in Computational and Systems Biology

1996-2000 Korea Advanced Institute of Science and Technology,South Korea

BS in Computer Science with Mathematics minor

Experience:

2012- Postdoctoral Research Fellow, Brigham and Women’s Hospital and Harvard Medical School

   Fall 2007 Teaching Assistant, WashingtonUniversityinSt.Louis

    Computational Molecular Biology (Course master: Michael Brent)

2004-2005 Researcher, Bioinformatics Research Laboratories, Co., South Korea

2000-2003 Software Engineer, Alticast Corp., South Korea

Honors/Activities:

2011 Walter M. Fitch student award contestant at the 2011 annual meeting of Society for Molecular Biology and Evolution

2008-2010 Lucille P. Markey Special Emphasis Pathway in Human Pathobiology

1996-2000 KAIST merit-based scholarship

1996-2000 College UNIX programming club

Publication

Chun, S. and Fay, J.C. Identification of deleterious mutations within three human genomes. Genome Research (2009)19:1553-1561.

Chun, S. and Fay, J.C. Evidence for hitchhiking of deleterious mutations within the human genome. PLoSGenetics (2011)7(8):e1002240.

Lawson, H.A., Nikolskiy, I., Chun,S., McLellan, M.D., Fay, J.C., Mardis, E.R. and Cheverud, J.M. Whole-genome sequences of LG/JandSM/J inbred mouse strains. Submitted

Chun, S., Plunkett, J., Teramo, K., Muglia, L.J. and Fay, J.C. Fine-mapping of the genetic association of FSH receptor with preterm birth in the Finnish population. Manuscript in preparation

서울대학교 생물정보연구소

생물정보학 협동과정 공동주최