제목	2021년 3월 25일 생물정보학 세미나
작성자	관리자	작성일	2021-03-15
서울대학교 생물정보학 협동과정 주최로 세미나를 아래와 같이 열고자 하오니 많은 참여 바랍니다. 세미나는 Zoom을 통한 온라인 강의로 예정되어 있으며 강의에 참여하고자 하시는 분께서는 아래의 링크로 참여 부탁드리겠습니다.　 일시: 2021년 3월 25일　목요일 오전 11시 연사: 김태민 연사님　(가톨릭의과대학) Zoom link:　https://snu-ac-kr.zoom.us/j/82930274153 Title:　History of Somatic Mutations in Cancer Genomes – From Mutation Signatures to Evolutionary Dependencies Abstract Mutations in cancer genomes may harbor unique genomic footprints representing their origins (e.g., mutagenesis-repairs) and evolutionary relationships (e.g., evolutionary dependencies of mutation pairs). For example, the frequencies of mutations in terms of trinucleotide contexts in given cancer genome(s) can be decomposed into relative abundance of several mutation signatures. Given that individual mutation signatures are associated with their tumor lineages and etiologies (e.g, Signature #4 is associated with tobacco smoking in lung cancers), it is now possible to estimate the relative contributions of mutational processes (mutagenesis-DNA replication-repair) in the shaping of individual cancer genomes. For mutation pairs, evolutionary dependencies have been proposed to explain the potential synergistic or antagonistic relationship of two mutations in pairs. Unique genomic presentation such as co-occurrences or mutual exclusivity of mutation pairs may be attributed to evolutionary dependencies leading to a potential clinical relevance associated with synthetic lethality. In this seminar, the recent work on the mutation signature analysis and evolutionary dependencies will be discussed along with the introduction of basic schemes. Using genome-wide mutation profiles obtained from > 2,000 cancer genome whole-genome sequencing from International Cancer Genome Consortium, we have performed loci-level mutation signature analysis to assign cognate mutational process of individual somatic mutations. Using the data, we demonstrate the regional impact of diverse mutational processes and also the consequences on known hotspot mutations. Mutation signature analysis on individual somatic mutations sheds lights on the contribution of mutagenic events for shaping the cancer genomes including the mutation origins of known hotspots, clonal-and-subclonal mutations for mutation evolution advancing our understanding into the driver mutations. Evolutionary measures to explain the genomic co-occurrences or mutation exclusiveness will be also introduced as new measures of evolutionary dependencies of mutation pairs.