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Article

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

Genome medicine - 29 Apr 2021

Fujimoto Akihiro, Wong Jing Hao, Yoshii Yukiko, Akiyama Shintaro, Tanaka Azusa, Yagi Hitomi, Shigemizu Daichi, Nakagawa Hidewaki, Mizokami Masashi, Shimada Mihoko

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33910608
DOI: 10.1186/s13073-021-00883-1
PMCID: PMC8082928

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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