{"id":"https://openalex.org/W4411238646","doi":"https://doi.org/10.1093/gpbjnl/qzaf054","title":"Deciphering Haplotype-level Chromosome Conformation Alteration in Down Syndrome by Haplotype-resolved Multi-omics Analysis","display_name":"Deciphering Haplotype-level Chromosome Conformation Alteration in Down Syndrome by Haplotype-resolved Multi-omics Analysis","publication_year":2025,"publication_date":"2025-06-12","ids":{"openalex":"https://openalex.org/W4411238646","doi":"https://doi.org/10.1093/gpbjnl/qzaf054","pmid":"https://pubmed.ncbi.nlm.nih.gov/40504033"},"language":"en","primary_location":{"id":"doi:10.1093/gpbjnl/qzaf054","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzaf054","pdf_url":"https://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzaf054/63477963/qzaf054.pdf","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://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzaf054/63477963/qzaf054.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033494854","display_name":"Chengchao Wu","orcid":null},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I176834541","display_name":"Guangdong Medical College","ror":"https://ror.org/04k5rxe29","country_code":"CN","type":"education","lineage":["https://openalex.org/I176834541"]},{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Chengchao Wu","raw_affiliation_strings":["Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University , Zhanjiang 524001,","College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University, Zhanjiang 524001, China","College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University , Zhanjiang 524001,","institution_ids":["https://openalex.org/I176834541"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Affiliated Hospital of Guangdong Medical University & Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University, Zhanjiang 524001, China","institution_ids":["https://openalex.org/I176834541"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108584965","display_name":"Taofei Zhou","orcid":"https://orcid.org/0000-0003-3555-0611"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Tianshu Zhou","raw_affiliation_strings":["Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112114497","display_name":"Wei-Min Ke","orcid":"https://orcid.org/0009-0009-8049-8630"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wenfu Ke","raw_affiliation_strings":["Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028347504","display_name":"Wei Xiong","orcid":null},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wei Xiong","raw_affiliation_strings":["Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113227573","display_name":"Zhihui Zhang","orcid":"https://orcid.org/0009-0001-6457-2484"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhihui Zhang","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University, Wuhan 430070, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019310889","display_name":"Siheng Zhang","orcid":null},"institutions":[{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Siheng Zhang","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071869649","display_name":"J. Wang","orcid":"https://orcid.org/0009-0004-7330-8038"},"institutions":[{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jinyue Wang","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057398715","display_name":"Lulu Deng","orcid":"https://orcid.org/0000-0001-6800-4954"},"institutions":[{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lulu Deng","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028659209","display_name":"Keji Yan","orcid":"https://orcid.org/0000-0003-4557-4078"},"institutions":[{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Keji Yan","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074114363","display_name":"Man Wang","orcid":"https://orcid.org/0009-0004-7955-0087"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Man Wang","raw_affiliation_strings":["Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006659970","display_name":"Shenglong He","orcid":null},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shenglong He","raw_affiliation_strings":["Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110861819","display_name":"Qi Gong","orcid":null},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qi Gong","raw_affiliation_strings":["Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101134409","display_name":"Chao Ma","orcid":null},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chao Ma","raw_affiliation_strings":["Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060468518","display_name":"X. Chen","orcid":null},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaping Chen","raw_affiliation_strings":["Department of Scientific Research, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Scientific Research, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Scientific Research, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Scientific Research, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070023806","display_name":"Yan Li","orcid":"https://orcid.org/0009-0005-3308-0398"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan Li","raw_affiliation_strings":["Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Outpatient Service Center, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101352940","display_name":"Long He","orcid":"https://orcid.org/0000-0002-8494-8258"},"institutions":[{"id":"https://openalex.org/I4210128175","display_name":"Shanghai East Hospital","ror":"https://ror.org/038xmzj21","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210128175"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"He Long","raw_affiliation_strings":["Department of Clinical Laboratory, Shanghai East Hospital, School of Medicine, Tongji University , Shanghai 200120,","Department of Clinical Laboratory, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai 200120, China"],"affiliations":[{"raw_affiliation_string":"Department of Clinical Laboratory, Shanghai East Hospital, School of Medicine, Tongji University , Shanghai 200120,","institution_ids":["https://openalex.org/I4210128175"]},{"raw_affiliation_string":"Department of Clinical Laboratory, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai 200120, China","institution_ids":["https://openalex.org/I4210128175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102909857","display_name":"Chong Guo","orcid":"https://orcid.org/0000-0003-3101-8564"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chong Guo","raw_affiliation_strings":["Department of Gynaecology and Obstetrics, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","Department of Gynaecology and Obstetrics, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"Department of Gynaecology and Obstetrics, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"Department of Gynaecology and Obstetrics, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103226613","display_name":"Gang Cao","orcid":"https://orcid.org/0000-0002-3020-5379"},"institutions":[{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]},{"id":"https://openalex.org/I4210145761","display_name":"Shenzhen Institutes of Advanced Technology","ror":"https://ror.org/04gh4er46","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210145761"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Gang Cao","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","Faculty of Life and Health Sciences, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , Shenzhen 518055,","NMPA Key Laboratory for Research and Evaluation of Viral Vector Technology in Cell and Gene Therapy Medicinal Products, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , Shenzhen 518055,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , Shenzhen 518055,","NMPA Key Laboratory for Research and Evaluation of Viral Vector Technology in Cell and Gene Therapy Medicinal Products, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China","College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Faculty of Life and Health Sciences, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , Shenzhen 518055,","institution_ids":["https://openalex.org/I4210145761"]},{"raw_affiliation_string":"NMPA Key Laboratory for Research and Evaluation of Viral Vector Technology in Cell and Gene Therapy Medicinal Products, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , Shenzhen 518055,","institution_ids":["https://openalex.org/I4210145761"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , Shenzhen 518055,","institution_ids":["https://openalex.org/I4210145761"]},{"raw_affiliation_string":"NMPA Key Laboratory for Research and Evaluation of Viral Vector Technology in Cell and Gene Therapy Medicinal Products, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China","institution_ids":["https://openalex.org/I4210145761"]},{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, China","institution_ids":["https://openalex.org/I204823248"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100388931","display_name":"Zhijun Zhang","orcid":"https://orcid.org/0000-0002-1290-2429"},"institutions":[{"id":"https://openalex.org/I1285929390","display_name":"Hubei University of Medicine","ror":"https://ror.org/01dr2b756","country_code":"CN","type":"education","lineage":["https://openalex.org/I1285929390"]},{"id":"https://openalex.org/I204823248","display_name":"Huazhong Agricultural University","ror":"https://ror.org/023b72294","country_code":"CN","type":"education","lineage":["https://openalex.org/I204823248"]},{"id":"https://openalex.org/I4210117378","display_name":"Taihe Hospital","ror":"https://ror.org/02ftdsn70","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210117378"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhijun Zhang","raw_affiliation_strings":["College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China"],"affiliations":[{"raw_affiliation_string":"College of Veterinary Medicine, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine , Shiyan 442000,","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]},{"raw_affiliation_string":"State Key Laboratory of Agricultural Microbiology, Huazhong Agricultural University , Wuhan 430070,","institution_ids":["https://openalex.org/I204823248"]},{"raw_affiliation_string":"Department of Reproductive Medical Center, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan 442000, China","institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I4210117378"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":19,"corresponding_author_ids":["https://openalex.org/A5033494854"],"corresponding_institution_ids":["https://openalex.org/I1285929390","https://openalex.org/I176834541","https://openalex.org/I204823248","https://openalex.org/I4210117378"],"apc_list":{"value":3500,"currency":"USD","value_usd":3500},"apc_paid":{"value":3500,"currency":"USD","value_usd":3500},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.18864565,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"23","issue":"4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.8734999895095825,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.8734999895095825,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ploidy","display_name":"Ploidy","score":0.827457845211029},{"id":"https://openalex.org/keywords/alternation","display_name":"Alternation (linguistics)","score":0.6459471583366394},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6377169489860535},{"id":"https://openalex.org/keywords/chromosome","display_name":"Chromosome","score":0.634277880191803},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5807231664657593},{"id":"https://openalex.org/keywords/doubled-haploidy","display_name":"Doubled haploidy","score":0.49318474531173706},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.45671382546424866},{"id":"https://openalex.org/keywords/karyotype","display_name":"Karyotype","score":0.4518241584300995},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1161518394947052}],"concepts":[{"id":"https://openalex.org/C143191323","wikidata":"https://www.wikidata.org/wiki/Q118406","display_name":"Ploidy","level":3,"score":0.827457845211029},{"id":"https://openalex.org/C26826806","wikidata":"https://www.wikidata.org/wiki/Q438358","display_name":"Alternation (linguistics)","level":2,"score":0.6459471583366394},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6377169489860535},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.634277880191803},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5807231664657593},{"id":"https://openalex.org/C34827325","wikidata":"https://www.wikidata.org/wiki/Q3037604","display_name":"Doubled haploidy","level":4,"score":0.49318474531173706},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.45671382546424866},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4518241584300995},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1161518394947052},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000095028","descriptor_name":"Multiomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D004314","descriptor_name":"Down Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/gpbjnl/qzaf054","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzaf054","pdf_url":"https://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzaf054/63477963/qzaf054.pdf","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:40504033","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40504033","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:europepmc.org:11378796","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12571509","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/gpbjnl/qzaf054","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzaf054","pdf_url":"https://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzaf054/63477963/qzaf054.pdf","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":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4411238646.pdf"},"referenced_works_count":32,"referenced_works":["https://openalex.org/W1709815505","https://openalex.org/W1941076503","https://openalex.org/W1991023630","https://openalex.org/W2014677321","https://openalex.org/W2030327143","https://openalex.org/W2031476501","https://openalex.org/W2073744431","https://openalex.org/W2103441770","https://openalex.org/W2131271579","https://openalex.org/W2150506261","https://openalex.org/W2161535481","https://openalex.org/W2163176957","https://openalex.org/W2179438025","https://openalex.org/W2561475925","https://openalex.org/W2768509963","https://openalex.org/W2789897363","https://openalex.org/W2794213518","https://openalex.org/W2800914998","https://openalex.org/W2945038365","https://openalex.org/W2949317881","https://openalex.org/W2951322997","https://openalex.org/W2964849163","https://openalex.org/W3011916641","https://openalex.org/W3047301850","https://openalex.org/W3124312836","https://openalex.org/W3194665116","https://openalex.org/W3199699026","https://openalex.org/W4221030787","https://openalex.org/W4294043869","https://openalex.org/W4295907576","https://openalex.org/W4301395114","https://openalex.org/W4307659092"],"related_works":["https://openalex.org/W2361526202","https://openalex.org/W2150639287","https://openalex.org/W2292492713","https://openalex.org/W2016365544","https://openalex.org/W2108498225","https://openalex.org/W2865076360","https://openalex.org/W2390806584","https://openalex.org/W3102727773","https://openalex.org/W2357064814","https://openalex.org/W4312270766"],"abstract_inverted_index":{"For":[0],"chromosome":[1,15],"abnormalities":[2],"(CAs),":[3],"such":[4],"as":[5],"Down":[6],"syndrome":[7],"(DS),":[8],"the":[9,24,29,61,64,83,90,93,98,109,115,126,136,147],"influence":[10],"of":[11,31,41,63,120,128],"genomic":[12,26,76,140],"variations":[13,50,77,141],"on":[14,23],"conformation":[16],"and":[17,56,80,97,146,155],"gene":[18,102,149],"transcription":[19,150],"remains":[20,106],"elusive.":[21],"Based":[22],"complete":[25],"sequences":[27],"from":[28,138],"parents":[30],"a":[32],"DS":[33,65,84],"trisomy":[34],"patient,":[35],"we":[36,113],"systematically":[37],"delineated":[38],"an":[39],"atlas":[40],"parental-specific,":[42],"haplotype-resolved":[43,69],"single":[44],"nucleotide":[45],"polymorphisms":[46],"(SNPs),":[47],"copy":[48],"number":[49],"(CNVs),":[51],"three-dimensional":[52],"(3D)":[53],"genome":[54,95,117,144],"architecture,":[55],"RNA":[57],"expression":[58],"profiles":[59],"in":[60,82,92,101,152],"diencephalon":[62],"patient.":[66],"The":[67],"integrated":[68],"multi-omics":[70],"analysis":[71],"demonstrated":[72],"that":[73],"one-dimensional":[74],"(1D)":[75],"including":[78],"SNPs":[79],"CNVs":[81],"patient":[85],"are":[86],"highly":[87],"correlated":[88],"with":[89],"alterations":[91],"3D":[94,116,143],"organization":[96],"subsequent":[99,148],"changes":[100],"transcription.":[103],"This":[104],"correlation":[105],"valid":[107],"at":[108],"haplotype":[110],"level.":[111],"Moreover,":[112],"revealed":[114],"alteration-associated":[118],"dysregulation":[119],"DS-related":[121],"genes,":[122],"which":[123],"facilitates":[124],"understanding":[125],"pathogenesis":[127],"CAs.":[129],"Together,":[130],"our":[131],"study":[132],"contributes":[133],"to":[134,142],"deciphering":[135],"coding":[137],"1D":[139],"architecture":[145],"outcomes":[151],"both":[153],"health":[154],"disease.":[156]},"counts_by_year":[],"updated_date":"2026-03-27T05:58:40.876381","created_date":"2025-10-10T00:00:00"}