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Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.

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第一作者: Jiao,Gong
第一单位: State Key Laboratory of Genetic Engineering, Lab for Evolutionary Synthesis, School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China.
作者单位: State Key Laboratory of Genetic Engineering, Lab for Evolutionary Synthesis, School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China. [1] Shanghai Frontiers Science Center of Genome Editing and Cell Therapy, Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China. [2] Bio-Med Big Data Center, Chinese Academy of Sciences Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of the Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China. [3] Department of Anthropology and Human Genetics, Institute for Six-sector Economy, and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China. [4] CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.;Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China. [5] State Key Laboratory of Genetic Engineering, Lab for Evolutionary Synthesis, School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China.;Research Unit of dissecting the population genetics and developing new technologies for treatment and prevention of skin phenotypes and dermatological diseases (2019RU058), Chinese Academy of Medical Sciences, Shanghai, China. [6] School of Data Science and Engineering, East China Normal University, Shanghai, China. [7] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Fritz.Sedlazeck@bcm.edu. [8] State Key Laboratory of Genetic Engineering, Lab for Evolutionary Synthesis, School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China. lijin@fudan.edu.cn.;Research Unit of dissecting the population genetics and developing new technologies for treatment and prevention of skin phenotypes and dermatological diseases (2019RU058), Chinese Academy of Medical Sciences, Shanghai, China. lijin@fudan.edu.cn. [9] Shanghai Frontiers Science Center of Genome Editing and Cell Therapy, Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China. ytguan@bio.ecnu.edu.cn. [10] State Key Laboratory of Genetic Engineering, Lab for Evolutionary Synthesis, School of Life Sciences, Human Phenome Institute, Fudan University, Shanghai, China. shaohua_fan@fudan.edu.cn. [11]
DOI 10.1038/s41467-025-56661-9
PMID 39929826
发布时间 2025-05-07
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Nature communications

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