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Cancer Genomics Study using Public Big Data

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작성일
2018-11-08
조회
19
서울대학교 생물정보연구소 세미나를 아래와 같이 열고자 하오니많은 참여 바랍니다.

 

일시: 2018년 11월 21일 오전 11시

연사: 홍동완(Dongwan Hong)

장소: 서울대학교 220동 625호 대회의실

 

제목: Cancer Genomics Study using Public Big Data

 

초록:

Recently, many cancer researchers and clinicians are interesting to study a multi-level omics data analysis using cancer big data such as The Cancer Genome Atlas (TCGA), International Cancer Genome Consortium (ICGC), and Gene Expression Omnibus (GEO). We’ll introduce our papers published on Nature Biotechnology (2013) and Nature Genetics (2015) using public data. First, to raise awareness of the dangers of the common filtering approach, we systematically investigate non-silent somatic point mutations in SNP database to characterize their frequency and clinical impact. A considerable number of mutation hot-spots in cancer-associated genes were present in SNP database. Some filtered cancer-associated somatic SNPs in example articles exhibited  known  mutually  exclusive  alteration  patterns  and  some  had  clinical significance in survival analysis. Next, We analyzed RNA-Seq and exome data from 1,812 cancer patients from TCGA data  portal  and  CGHub,  and  identified  ~900  somatic  exonic  SNVs  that  disrupt splicing. At lest 163 SNVs – including 31 synonymous ones – were shown to cause intron retention or exon skipping in an allele-specific manner, with ~70% of the SNVs occurring on the last base of exons. Importantly, SNVs causing intron retention were enriched in tumor suppressors, and 97% of these SNVs generated a premature termination  codon  (PTC),  leading  to  loss  of  function  through  nonsense-mediated decay or truncated proteins. This work demonstrates that intron retention is a common mechanism of tumor suppressor inactivation.

 

 

 

연사이력:

학 력: Hallym University , Republic of  Korea

Ph.D., Computer Engineering (Database), (February 2008)

Research Advisor: Prof. Jeehee Yoon (Hallym University)

M.S ., Computer Engineering (Database), (February  1998)

Research Advisor: Prof. Jeehee Yoon (Hallym University)

B.S., Computer science , (February 1996)

 

경 력:

-Clinical Genomics Analysis Branch, National Cancer Center

 Senior Scientist, April 2011 -  present

-Genomic Medicine Institute, Medical Research Center Seoul National University

 Senior Researcher & Director of Bioinformatics team, August 2008 - March  2011

-Dept. of Biomedical, Hallym University

 Adjunct professor, March 2008 - August 2009          

-Dept. of Media Contents, Songgok University

 Assistant professor , March 2003 - February  2007

-Dept. of Computer Engineering, Hallym University  

 Full-time lecturer, September 2001 - February 2003

 

 

서울대학교 생물정보연구소주최