Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer.

ABSTRACT:

Background

Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic mutations is far from complete.

Methods

In the present study, we performed whole-genome sequencing using long-read sequencing technology (Oxford Nanopore) for 11 Japanese liver cancers and matched normal samples which were previously sequenced for the International Cancer Genome Consortium (ICGC). We constructed an analysis pipeline for the long-read data and identified germline and somatic structural variations (SVs).

Results

In polymorphic germline SVs, our analysis identified 8004 insertions, 6389 deletions, 27 inversio

SUBMITTER: Fujimoto A 

PROVIDER: S-EPMC8082928 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature