A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.

ABSTRACT: Advances in next-generation sequencing (NGS) technology have made personal genome sequencing possible, and indeed, many individual 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 and act through various mechanisms, including de novo insertion, insertion-mediated deletion, and TE-TE recombination-mediated deletion. In this study, we carried out de novo whole-genome sequencing of one Korean individual (KPGP9) via multiple insert-size libraries. The de novo whole-genome assembly resulted in 31,305 scaffolds with a scaffold N50 size of 13.

SUBMITTER: Mun S 

PROVIDER: S-EPMC8102501 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature