Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypi...
Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility
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Author / Creator
Gong, Jiao , Sun, Huiru , Wang, Kaiyuan , Zhao, Yanhui , Huang, Yechao , Chen, Qinsheng , Qiao, Hui , Gao, Yang , Zhao, Jialin , Ling, Yunchao , Cao, Ruifang , Tan, Jingze , Wang, Qi , Ma, Yanyun , Li, Jing , Luo, Jingchun , Wang, Sijia , Wang, Jiucun , Zhang, Guoqing , Xu, Shuhua , Qian, Feng , Zhou, Fang , Tang, Huiru , Li, Dali , Sedlazeck, Fritz J. , Jin, Li , Guan, Yuting , Fan, Shaohua and Chinese Pangenome Consortium (CPC)
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Genomic structural variants (SVs) are a major source of genetic diversity in humans. Here, through long-read sequencing of 945 Han Chinese genomes, we identify 111,288 SVs, including 24.56% unreported variants, many with predicted functional importance. By integrating human population-level phenotypic and multi-omics data as well as two humanized m...
Alternative Titles
Full title
Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility
Authors, Artists and Contributors
Author / Creator
Sun, Huiru
Wang, Kaiyuan
Zhao, Yanhui
Huang, Yechao
Chen, Qinsheng
Qiao, Hui
Gao, Yang
Zhao, Jialin
Ling, Yunchao
Cao, Ruifang
Tan, Jingze
Wang, Qi
Ma, Yanyun
Li, Jing
Luo, Jingchun
Wang, Sijia
Wang, Jiucun
Zhang, Guoqing
Xu, Shuhua
Qian, Feng
Zhou, Fang
Tang, Huiru
Li, Dali
Sedlazeck, Fritz J.
Jin, Li
Guan, Yuting
Fan, Shaohua
Chinese Pangenome Consortium (CPC)
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6ef134599afb4836a9228ccbaf49b7c4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6ef134599afb4836a9228ccbaf49b7c4
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-025-56661-9
