[대학원 생명과학과 세미나 안내]
연사 : 한규동 교수(단국대학교 나노바이오의과학과)
연제 : A study of transposable element-associated structural variations (TASVs) using a de novo assembled Korean genome
일시 : 2018년 12월 7일 (금) 오후 5시
장소 : 하나과학관 A동 B131호
초청교수 : 강성만 교수
Abstract
Background: Advancements in next-generation sequencing (NGS) technology have made personal genome sequencing possible, and indeed many human genomes have now been sequenced. Comparisons of these individual genomes have revealed substantial genomic differences between human populations as well as between individuals from closely related ethnic groups. Transposable elements (TEs) are known to be one of the major sources of these variations through various mechanisms including de novo insertion, insertion-mediated deletion, and TE-TE recombination-mediated deletion.
Results: In this study, we carried out de novo whole-genome sequencing of one Korean individual (KPGP9) via multiple insert-size libraries. The de novo wholeg-enome assembly results in 31,305 scaffolds with a scaffold N50 size of 13.23 Mb. Further, through computational data analysis and experimental verification, we revealed that 182 TE-associated structural variation (TASV) insertions and 89 TASV deletions contributed 64,232 bp in sequence gain and 82,772 bp in sequence loss in the KPGP9 genome, respectively. In addition, we investigated the functional effects of the new TASVs on the human genome by analyzing their biological functions and clinical implications.
Conclusions: Here, we release another Korean de novo whole-genome and provide the first study, to our knowledge, focusing on the identification of TASVs in an individual Korean genome. Our finding highlights again the role of TEs as one of major drivers creating structural variations in human individuals.