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

Akihiro FujimotoJing Hao WongYukiko YoshiiShintaro AkiyamaAzusa TanakaHitomi YagiDaichi ShigemizuHidewaki NakagawaMasashi MizokamiMihoko Shimada

Published in: Genome medicine (2021)

Our analysis provides a comprehensive catalog of polymorphic and somatic SVs, as well as their possible causes. Our software are available at https://github.com/afujimoto/CAMPHOR and https://github.com/afujimoto/CAMPHORsomatic .

Keyphrases

copy number
endothelial cells
papillary thyroid
genome wide
squamous cell
induced pluripotent stem cells
pluripotent stem cells
squamous cell carcinoma
dna methylation
gene expression
lymph node metastasis
young adults