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

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 I...

Full description

Bibliographic Details
Main Authors: Akihiro Fujimoto, Jing Hao Wong, Yukiko Yoshii, Shintaro Akiyama, Azusa Tanaka, Hitomi Yagi, Daichi Shigemizu, Hidewaki Nakagawa, Masashi Mizokami, Mihoko Shimada
Format: Article
Language:English
Published: BMC 2021-04-01
Series:Genome Medicine
Subjects:
Long reads
Origin of structural variations (SVs)
Germline SVs
Somatic SVs
Online Access:https://doi.org/10.1186/s13073-021-00883-1

Internet

https://doi.org/10.1186/s13073-021-00883-1

Similar Items