[부산대 AI 콜로퀴엄 2025] 4/21(월), Alex Urban 교수(Stanford University) Advanced experimental and computational genome analysis approaches to resolve complex genome variation associated with the human brain

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일시: 2025. 4. 21.(월) 오전 10:30-11:30

장소: 부산대학교 대학본부 3층 대회의실

주제: Advanced experimental and computational genome analysis approaches to resolve complex genome variation associated with the human brain

연사: Alex Urban / Stanford University

 

Abstract 

The human genome sequence contains complexities in many different manifestations. Often these complexities are associated with, or at least implicated to play a role in, normal and abnormal development and functioning of the human brain. Standard genome sequencing may not be well suited to resolve these types of genome sequence complexities. But advanced approaches for genome sequence analysis, on the experimental and computational level, can be used to reveal complex genome sequence variation that is associated with the human brain.

Several types of complex genome sequence variation, and the approaches used to analyze them, will be discussed. Even standard short-read whole-genome sequencing data can be computationally processed using graph-based analysis and machine learning filters to reveal structural sequence variation in the unique sequence portion of the genome, including complex structural variants (cxSVs). Meanwhile, segmental duplication (SegDup) portions of the human genome are mostly impenetrable to short-read sequencing but can be resolved, in psychiatric patient cohorts, using in vitro CRISPR-targeting combined with long-read sequencing and de novo assembly. Further, an additional layer of genome sequence complexity can exist by having sequence variation present not in the germline but in somatic tissues. Ultra-deep sequencing again coupled with machine learning filters, can be employed to detect and analyze such somatic variation, for example somatic insertions of LINE-1 retrotransposons in human brain cells. 

 

Bio 

ACADEMIC APPOINTMENTS

- Associate Professor, Psychiatry and Behavioral Sciences 

- Associate Professor, Genetics 

 

PROFESSIONAL EDUCATION 

- PhD, Yale University, Molecular, Cellular and Developmental Biology (2007)