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

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 p...

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Publicado en:Genome Med
Main Authors: Fujimoto, Akihiro, Wong, Jing Hao, Yoshii, Yukiko, Akiyama, Shintaro, Tanaka, Azusa, Yagi, Hitomi, Shigemizu, Daichi, Nakagawa, Hidewaki, Mizokami, Masashi, Shimada, Mihoko
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8082928/
https://ncbi.nlm.nih.gov/pubmed/33910608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00883-1
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