서울대학교 생물정보학 협동과정 주최로 세미나를 아래와 같이 열고자 하오니 많은 참여 바랍니다.

일시:　2019년　3월　19일 화요일 오전 11시

연사:　안준용　교수님 (고려대학교)

장소:　서울대학교　221동　113호

TITLE

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

ABSTRACT

　　Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated with ASD. Casting noncoding variation in the context of a de novo risk score across multiple annotation categories, however, did demonstrate association with mutations localized to promoter regions. We found that the strongest driver of this promoter signal emanates from evolutionarily conserved transcription factor binding sites distal to the transcription start site. These data suggest that de novo mutations in promoter regions, characterized by evolutionary and functional signatures, contribute to ASD.