{"id":"https://openalex.org/W4416060102","doi":"https://doi.org/10.1093/gpbjnl/qzaf098","title":"Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP","display_name":"Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP","publication_year":2025,"publication_date":"2025-10-01","ids":{"openalex":"https://openalex.org/W4416060102","doi":"https://doi.org/10.1093/gpbjnl/qzaf098","pmid":"https://pubmed.ncbi.nlm.nih.gov/41206126"},"language":"en","primary_location":{"id":"doi:10.1093/gpbjnl/qzaf098","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzaf098","pdf_url":null,"source":{"id":"https://openalex.org/S155547894","display_name":"Genomics Proteomics & Bioinformatics","issn_l":"1672-0229","issn":["1672-0229","2210-3244"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genomics, Proteomics & Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/gpbjnl/qzaf098","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061396470","display_name":"Yuanxin Wang","orcid":"https://orcid.org/0009-0008-3631-7831"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yuanxin Wang (\u738b\u56ed\u946b)","raw_affiliation_strings":["College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0009-0008-3631-7831","affiliations":[{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jiajia Wang (\u738b\u4f73\u4f73)","orcid":"https://orcid.org/0009-0001-0393-1981"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiajia Wang (\u738b\u4f73\u4f73)","raw_affiliation_strings":["State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0009-0001-0393-1981","affiliations":[{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100324112","display_name":"Yanyan Li","orcid":"https://orcid.org/0000-0001-5256-6696"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanyan Li (\u674e\u71d5\u71d5)","raw_affiliation_strings":["State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0001-5256-6696","affiliations":[{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100364059","display_name":"Peng Zhang","orcid":"https://orcid.org/0000-0001-9303-1639"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Peng Zhang (\u5f20\u9e4f)","raw_affiliation_strings":["State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0001-9303-1639","affiliations":[{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036457065","display_name":"Zhonglong Wang","orcid":"https://orcid.org/0009-0003-6236-802X"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhonglong Wang (\u738b\u4e2d\u9f99)","raw_affiliation_strings":["College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0009-0003-6236-802X","affiliations":[{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100320476","display_name":"Shuai Liu","orcid":"https://orcid.org/0000-0001-9015-4772"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shuai Liu (\u5218\u5e05)","raw_affiliation_strings":["State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0001-9015-4772","affiliations":[{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014554768","display_name":"Yiwei Niu","orcid":"https://orcid.org/0000-0002-9694-8159"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yiwei Niu (\u725b\u4eea\u4f1f)","raw_affiliation_strings":["State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0002-9694-8159","affiliations":[{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100884641","display_name":"Ya Shi","orcid":"https://orcid.org/0009-0006-5324-2662"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yirong Shi (\u53f2\u5fc6\u620e)","raw_affiliation_strings":["College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0009-0006-5324-2662","affiliations":[{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017051913","display_name":"Sijia Zhang","orcid":"https://orcid.org/0000-0001-9943-3073"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Sijia Zhang (\u5f20\u65af\u4f73)","raw_affiliation_strings":["College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China"],"raw_orcid":"https://orcid.org/0000-0001-9943-3073","affiliations":[{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]},{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040023716","display_name":"Tingrui Song","orcid":"https://orcid.org/0000-0003-2967-7704"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Tingrui Song (\u5b8b\u5ef7\u745e)","raw_affiliation_strings":["State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0003-2967-7704","affiliations":[{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024998766","display_name":"Tao Xu","orcid":"https://orcid.org/0000-0002-8260-9754"},"institutions":[{"id":"https://openalex.org/I1302978242","display_name":"Academy of Medical Sciences","ror":"https://ror.org/00c489v88","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I1302978242"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]},{"id":"https://openalex.org/I4210163399","display_name":"Shandong First Medical University","ror":"https://ror.org/05jb9pq57","country_code":"CN","type":"education","lineage":["https://openalex.org/I4210163399"]}],"countries":["CN","GB"],"is_corresponding":false,"raw_author_name":"Tao Xu (\u5f90\u6d9b)","raw_affiliation_strings":["National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","Shandong First Medical University & Shandong Academy of Medical Sciences , Jinan 250117,","Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250117, China","National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0002-8260-9754","affiliations":[{"raw_affiliation_string":"National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"Shandong First Medical University & Shandong Academy of Medical Sciences , Jinan 250117,","institution_ids":["https://openalex.org/I4210163399","https://openalex.org/I1302978242"]},{"raw_affiliation_string":"Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250117, China","institution_ids":["https://openalex.org/I4210163399"]},{"raw_affiliation_string":"National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002270726","display_name":"Shunmin He","orcid":"https://orcid.org/0000-0002-7294-0865"},"institutions":[{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210112540","display_name":"Institute of Biophysics","ror":"https://ror.org/01tyv8576","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210112540"]},{"id":"https://openalex.org/I4210165038","display_name":"University of Chinese Academy of Sciences","ror":"https://ror.org/05qbk4x57","country_code":"CN","type":"education","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210165038"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shunmin He (\u4f55\u987a\u6c11)","raw_affiliation_strings":["College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China"],"raw_orcid":"https://orcid.org/0000-0002-7294-0865","affiliations":[{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"State Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I4210112540"]},{"raw_affiliation_string":"College of Life Sciences, University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Key Laboratory of Epigenetic Regulation and Intervention, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I4210112540","https://openalex.org/I19820366"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5061396470"],"corresponding_institution_ids":["https://openalex.org/I19820366","https://openalex.org/I4210112540","https://openalex.org/I4210165038"],"apc_list":{"value":3500,"currency":"USD","value_usd":3500},"apc_paid":{"value":3500,"currency":"USD","value_usd":3500},"fwci":0.6255,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.73784917,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"23","issue":"5","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.989300012588501,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mitochondrial-dna","display_name":"Mitochondrial DNA","score":0.9258000254631042},{"id":"https://openalex.org/keywords/nuclear-dna","display_name":"Nuclear DNA","score":0.7322999835014343},{"id":"https://openalex.org/keywords/nuclear-gene","display_name":"Nuclear gene","score":0.6699000000953674},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5963000059127808},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5080000162124634},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.48559999465942383},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.4530999958515167},{"id":"https://openalex.org/keywords/phylogenetic-tree","display_name":"Phylogenetic tree","score":0.43549999594688416}],"concepts":[{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.9258000254631042},{"id":"https://openalex.org/C115960442","wikidata":"https://www.wikidata.org/wiki/Q769863","display_name":"Nuclear DNA","level":4,"score":0.7322999835014343},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.722100019454956},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6985999941825867},{"id":"https://openalex.org/C20750100","wikidata":"https://www.wikidata.org/wiki/Q7068120","display_name":"Nuclear gene","level":4,"score":0.6699000000953674},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5963000059127808},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5080000162124634},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.48559999465942383},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4530999958515167},{"id":"https://openalex.org/C193252679","wikidata":"https://www.wikidata.org/wiki/Q242125","display_name":"Phylogenetic tree","level":3,"score":0.43549999594688416},{"id":"https://openalex.org/C17757408","wikidata":"https://www.wikidata.org/wiki/Q4135516","display_name":"genomic DNA","level":3,"score":0.37369999289512634},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.3619999885559082},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.3463999927043915},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3230000138282776},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3037000000476837},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.30250000953674316},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.28679999709129333},{"id":"https://openalex.org/C19811304","wikidata":"https://www.wikidata.org/wiki/Q6930378","display_name":"mtDNA control region","level":5,"score":0.2741999924182892},{"id":"https://openalex.org/C201526758","wikidata":"https://www.wikidata.org/wiki/Q80686","display_name":"Haplogroup","level":5,"score":0.2678999900817871},{"id":"https://openalex.org/C90132467","wikidata":"https://www.wikidata.org/wiki/Q171184","display_name":"Phylogenetics","level":3,"score":0.2639999985694885},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.2533000111579895},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.2533000111579895}],"mesh":[{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002467","descriptor_name":"Cell Nucleus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044466","descriptor_name":"Asian People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D054629","descriptor_name":"Genome, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/gpbjnl/qzaf098","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzaf098","pdf_url":null,"source":{"id":"https://openalex.org/S155547894","display_name":"Genomics Proteomics & Bioinformatics","issn_l":"1672-0229","issn":["1672-0229","2210-3244"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genomics, Proteomics & Bioinformatics","raw_type":"journal-article"},{"id":"pmid:41206126","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41206126","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genomics, proteomics & bioinformatics","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:12790922","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12790922/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Genomics Proteomics Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/gpbjnl/qzaf098","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzaf098","pdf_url":null,"source":{"id":"https://openalex.org/S155547894","display_name":"Genomics Proteomics & Bioinformatics","issn_l":"1672-0229","issn":["1672-0229","2210-3244"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genomics, Proteomics & Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":72,"referenced_works":["https://openalex.org/W1520910338","https://openalex.org/W1783421324","https://openalex.org/W1967464495","https://openalex.org/W1967527003","https://openalex.org/W1974975570","https://openalex.org/W1978537438","https://openalex.org/W1997713301","https://openalex.org/W2005520835","https://openalex.org/W2005581687","https://openalex.org/W2006140404","https://openalex.org/W2024294233","https://openalex.org/W2034773856","https://openalex.org/W2052850516","https://openalex.org/W2056774384","https://openalex.org/W2064798572","https://openalex.org/W2064802634","https://openalex.org/W2070869619","https://openalex.org/W2084621494","https://openalex.org/W2102619694","https://openalex.org/W2104954806","https://openalex.org/W2111668248","https://openalex.org/W2117561017","https://openalex.org/W2117917159","https://openalex.org/W2127380523","https://openalex.org/W2138532379","https://openalex.org/W2156603613","https://openalex.org/W2158804744","https://openalex.org/W2168133698","https://openalex.org/W2191690548","https://openalex.org/W2336818861","https://openalex.org/W2417483443","https://openalex.org/W2580152661","https://openalex.org/W2610487679","https://openalex.org/W2775233218","https://openalex.org/W2792058112","https://openalex.org/W2889014526","https://openalex.org/W2896434827","https://openalex.org/W2904042934","https://openalex.org/W2908331360","https://openalex.org/W2976280485","https://openalex.org/W2980068720","https://openalex.org/W2980622391","https://openalex.org/W3000879939","https://openalex.org/W3004462687","https://openalex.org/W3011049311","https://openalex.org/W3040655089","https://openalex.org/W3041407523","https://openalex.org/W3090978739","https://openalex.org/W3109437984","https://openalex.org/W3110800731","https://openalex.org/W3121343509","https://openalex.org/W3162304089","https://openalex.org/W3211664027","https://openalex.org/W4211115630","https://openalex.org/W4211253767","https://openalex.org/W4221070908","https://openalex.org/W4247053599","https://openalex.org/W4283791301","https://openalex.org/W4302011048","https://openalex.org/W4321186223","https://openalex.org/W4365138744","https://openalex.org/W4367181616","https://openalex.org/W4378783723","https://openalex.org/W4385877943","https://openalex.org/W4387425886","https://openalex.org/W4393572532","https://openalex.org/W4399438743","https://openalex.org/W4401795513","https://openalex.org/W4403472190","https://openalex.org/W4406709270","https://openalex.org/W4406847701","https://openalex.org/W4413680442"],"related_works":[],"abstract_inverted_index":{"Dysfunctional":[0],"mitochondria":[1],"are":[2],"implicated":[3],"in":[4,14,103,127,137,156],"various":[5],"diseases,":[6],"but":[7],"comprehensive":[8,152],"characterization":[9],"of":[10,26,134,154,166],"mitochondrial":[11,65],"DNA":[12,66,94],"(mtDNA)":[13],"the":[15,36,43,128,150,157,162],"Chinese":[16,33,158,167],"population":[17,159],"remains":[18],"limited.":[19],"Here,":[20],"we":[21],"conducted":[22],"a":[23],"systematic":[24],"analysis":[25],"mtDNA":[27,52,72,89,168],"from":[28,35,42],"7331":[29],"samples,":[30],"comprising":[31],"4129":[32],"samples":[34,41,57],"NyuWa":[37,105,129],"cohort":[38,130],"and":[39,61,74,91,106,160,170],"3202":[40],"1000":[44],"Genomes":[45],"Project":[46],"(1KGP).":[47],"We":[48],"identified":[49],"7216":[50],"high-quality":[51],"variants,":[53],"which":[54],"classified":[55],"7266":[56],"into":[58,120],"22":[59],"macro-haplogroups,":[60],"detected":[62],"1466":[63],"nuclear":[64,93,121,135,140],"segments":[67],"(NUMTs).":[68],"Among":[69],"these,":[70],"88":[71],"variants":[73,90,169],"642":[75],"NUMTs":[76,115,126,155,171],"were":[77],"specific":[78],"to":[79,118,144,172],"NyuWa.":[80],"Genome-wide":[81],"association":[82],"analyses":[83],"revealed":[84],"significant":[85,132],"correlations":[86],"between":[87],"12":[88],"199":[92],"(nDNA)":[95],"variants.":[96],"Our":[97],"findings":[98],"demonstrated":[99],"that":[100,116],"all":[101],"individuals":[102],"both":[104],"1KGP":[107],"harbored":[108],"common":[109],"NUMTs,":[110],"while":[111],"one-fifth":[112],"possessed":[113],"ultra-rare":[114],"tended":[117],"insert":[119],"gene":[122],"regions.":[123],"Notably,":[124],"rare":[125],"showed":[131],"enrichment":[133],"breakpoints":[136],"long":[138],"interspersed":[139],"elements":[141],"(LINEs)":[142],"compared":[143],"1KGP.":[145],"Overall,":[146],"this":[147],"study":[148],"provides":[149],"first":[151],"profile":[153],"establishes":[161],"most":[163],"extensive":[164],"resource":[165],"date":[173],"based":[174],"on":[175,186],"high-depth":[176],"whole-genome":[177],"sequencing,":[178],"providing":[179],"valuable":[180],"reference":[181],"resources":[182],"for":[183],"genetic":[184],"research":[185],"mtDNA-related":[187],"diseases.":[188]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-11-09T00:00:00"}