{"id":"https://openalex.org/W4403215035","doi":"https://doi.org/10.1093/gpbjnl/qzae070","title":"Enhancing Variant Calling in Whole-exome Sequencing Data Using Population-matched Reference Genomes","display_name":"Enhancing Variant Calling in Whole-exome Sequencing Data Using Population-matched Reference Genomes","publication_year":2024,"publication_date":"2024-10-01","ids":{"openalex":"https://openalex.org/W4403215035","doi":"https://doi.org/10.1093/gpbjnl/qzae070","pmid":"https://pubmed.ncbi.nlm.nih.gov/39378130"},"language":"en","primary_location":{"id":"doi:10.1093/gpbjnl/qzae070","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzae070","pdf_url":"https://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzae070/59639736/qzae070.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/qzae070/59639736/qzae070.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101695099","display_name":"Shuming Guo","orcid":"https://orcid.org/0009-0001-7931-3725"},"institutions":[{"id":"https://openalex.org/I4210088547","display_name":"Xian Central Hospital","ror":"https://ror.org/004cdc714","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210088547"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Shuming Guo","raw_affiliation_strings":["Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China"],"affiliations":[{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","institution_ids":["https://openalex.org/I4210088547"]},{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China","institution_ids":["https://openalex.org/I4210088547"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103556836","display_name":"Zhuo Huang","orcid":"https://orcid.org/0009-0005-1023-1560"},"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/I2801577699","display_name":"Beijing Institute of Genomics","ror":"https://ror.org/049gn7z52","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I2801577699"]},{"id":"https://openalex.org/I4210162648","display_name":"Shanghai Center For Bioinformation Technology","ror":"https://ror.org/04nyf1f54","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210162648"]},{"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":"Zhuo Huang","raw_affiliation_strings":["Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","China National Center for Bioinformation , Beijing 100101,","University of Chinese Academy of Sciences , Beijing 100049,","University of Chinese Academy of Sciences, Beijing 100049, China","Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","China National Center for Bioinformation, Beijing 100101, China"],"affiliations":[{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation , Beijing 100101,","institution_ids":["https://openalex.org/I4210162648"]},{"raw_affiliation_string":"University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation, Beijing 100101, China","institution_ids":["https://openalex.org/I4210162648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103461785","display_name":"Yanming Zhang","orcid":"https://orcid.org/0009-0007-1480-1756"},"institutions":[{"id":"https://openalex.org/I4210088547","display_name":"Xian Central Hospital","ror":"https://ror.org/004cdc714","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210088547"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanming Zhang","raw_affiliation_strings":["Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China"],"affiliations":[{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","institution_ids":["https://openalex.org/I4210088547"]},{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China","institution_ids":["https://openalex.org/I4210088547"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089483022","display_name":"Yukun He","orcid":"https://orcid.org/0000-0002-4164-2478"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]},{"id":"https://openalex.org/I4210124809","display_name":"Peking University People's Hospital","ror":"https://ror.org/035adwg89","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210124809"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yukun He","raw_affiliation_strings":["Department of Respiratory and Critical Care Medicine, Peking University People\u2019s Hospital , Beijing 100044,","Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing 100044, China"],"affiliations":[{"raw_affiliation_string":"Department of Respiratory and Critical Care Medicine, Peking University People\u2019s Hospital , Beijing 100044,","institution_ids":["https://openalex.org/I4210124809","https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing 100044, China","institution_ids":["https://openalex.org/I4210124809","https://openalex.org/I20231570"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031034876","display_name":"Xiangju Chen","orcid":"https://orcid.org/0009-0005-7059-6350"},"institutions":[{"id":"https://openalex.org/I4210088547","display_name":"Xian Central Hospital","ror":"https://ror.org/004cdc714","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210088547"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiangju Chen","raw_affiliation_strings":["Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China"],"affiliations":[{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","institution_ids":["https://openalex.org/I4210088547"]},{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China","institution_ids":["https://openalex.org/I4210088547"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019174472","display_name":"Wenjuan Wang","orcid":null},"institutions":[{"id":"https://openalex.org/I4210088547","display_name":"Xian Central Hospital","ror":"https://ror.org/004cdc714","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210088547"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wenjuan Wang","raw_affiliation_strings":["Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China"],"affiliations":[{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","institution_ids":["https://openalex.org/I4210088547"]},{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China","institution_ids":["https://openalex.org/I4210088547"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031062883","display_name":"L.M. Li","orcid":"https://orcid.org/0009-0004-0689-8752"},"institutions":[{"id":"https://openalex.org/I4210088547","display_name":"Xian Central Hospital","ror":"https://ror.org/004cdc714","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210088547"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lansheng Li","raw_affiliation_strings":["Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China"],"affiliations":[{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital , LinFen 041000,","institution_ids":["https://openalex.org/I4210088547"]},{"raw_affiliation_string":"Linfen Clinical Medicine Research Center, LinFen Central Hospital, LinFen 041000, China","institution_ids":["https://openalex.org/I4210088547"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110921685","display_name":"Yu Kang","orcid":"https://orcid.org/0000-0001-5196-0376"},"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/I2801577699","display_name":"Beijing Institute of Genomics","ror":"https://ror.org/049gn7z52","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I2801577699"]},{"id":"https://openalex.org/I4210162648","display_name":"Shanghai Center For Bioinformation Technology","ror":"https://ror.org/04nyf1f54","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210162648"]},{"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":"Yu Kang","raw_affiliation_strings":["Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","China National Center for Bioinformation , Beijing 100101,","University of Chinese Academy of Sciences , Beijing 100049,","China National Center for Bioinformation, Beijing 100101, China","Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","University of Chinese Academy of Sciences, Beijing 100049, China"],"affiliations":[{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation , Beijing 100101,","institution_ids":["https://openalex.org/I4210162648"]},{"raw_affiliation_string":"University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"China National Center for Bioinformation, Beijing 100101, China","institution_ids":["https://openalex.org/I4210162648"]},{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005602911","display_name":"Zhancheng Gao","orcid":"https://orcid.org/0000-0001-7415-1416"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]},{"id":"https://openalex.org/I4210124809","display_name":"Peking University People's Hospital","ror":"https://ror.org/035adwg89","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210124809"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Zhancheng Gao","raw_affiliation_strings":["Department of Respiratory and Critical Care Medicine, Peking University People\u2019s Hospital , Beijing 100044,","Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing 100044, China"],"affiliations":[{"raw_affiliation_string":"Department of Respiratory and Critical Care Medicine, Peking University People\u2019s Hospital , Beijing 100044,","institution_ids":["https://openalex.org/I4210124809","https://openalex.org/I20231570"]},{"raw_affiliation_string":"Department of Respiratory and Critical Care Medicine, Peking University People's Hospital, Beijing 100044, China","institution_ids":["https://openalex.org/I4210124809","https://openalex.org/I20231570"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jun Yu","orcid":"https://orcid.org/0000-0001-7599-2700"},"institutions":[{"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":"Jun Yu","raw_affiliation_strings":["University of Chinese Academy of Sciences , Beijing 100049,","University of Chinese Academy of Sciences, Beijing 100049, China"],"affiliations":[{"raw_affiliation_string":"University of Chinese Academy of Sciences , Beijing 100049,","institution_ids":["https://openalex.org/I4210165038"]},{"raw_affiliation_string":"University of Chinese Academy of Sciences, Beijing 100049, China","institution_ids":["https://openalex.org/I4210165038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069720699","display_name":"Zhenglin Du","orcid":"https://orcid.org/0000-0003-2147-3475"},"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/I2801577699","display_name":"Beijing Institute of Genomics","ror":"https://ror.org/049gn7z52","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I2801577699"]},{"id":"https://openalex.org/I4210151791","display_name":"Genomics (United Kingdom)","ror":"https://ror.org/053a6xa29","country_code":"GB","type":"company","lineage":["https://openalex.org/I4210151791"]},{"id":"https://openalex.org/I4210162648","display_name":"Shanghai Center For Bioinformation Technology","ror":"https://ror.org/04nyf1f54","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210162648"]}],"countries":["CN","GB"],"is_corresponding":false,"raw_author_name":"Zhenglin Du","raw_affiliation_strings":["Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","China National Center for Bioinformation , Beijing 100101,","Institute of PSI Genomics , Wenzhou 325024,","Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","China National Center for Bioinformation, Beijing 100101, China","Institute of PSI Genomics, Wenzhou 325024, China"],"affiliations":[{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation , Beijing 100101,","institution_ids":["https://openalex.org/I4210162648"]},{"raw_affiliation_string":"Institute of PSI Genomics , Wenzhou 325024,","institution_ids":["https://openalex.org/I4210151791"]},{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation, Beijing 100101, China","institution_ids":["https://openalex.org/I4210162648"]},{"raw_affiliation_string":"Institute of PSI Genomics, Wenzhou 325024, China","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110703133","display_name":"Yanan Chu","orcid":"https://orcid.org/0000-0002-9349-4307"},"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/I2801577699","display_name":"Beijing Institute of Genomics","ror":"https://ror.org/049gn7z52","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I2801577699"]},{"id":"https://openalex.org/I4210162648","display_name":"Shanghai Center For Bioinformation Technology","ror":"https://ror.org/04nyf1f54","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210162648"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanan Chu","raw_affiliation_strings":["Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","China National Center for Bioinformation , Beijing 100101,","Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","China National Center for Bioinformation, Beijing 100101, China"],"affiliations":[{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences , Beijing 100101,","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation , Beijing 100101,","institution_ids":["https://openalex.org/I4210162648"]},{"raw_affiliation_string":"Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China","institution_ids":["https://openalex.org/I2801577699","https://openalex.org/I19820366"]},{"raw_affiliation_string":"China National Center for Bioinformation, Beijing 100101, China","institution_ids":["https://openalex.org/I4210162648"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5101695099"],"corresponding_institution_ids":["https://openalex.org/I4210088547"],"apc_list":{"value":3500,"currency":"USD","value_usd":3500},"apc_paid":{"value":3500,"currency":"USD","value_usd":3500},"fwci":0.5554,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.68563321,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":96},"biblio":{"volume":"22","issue":"5","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9997000098228455,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9997000098228455,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9983999729156494,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9979000091552734,"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/exome-sequencing","display_name":"Exome sequencing","score":0.7270539999008179},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.6793496608734131},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6171821355819702},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6150166988372803},{"id":"https://openalex.org/keywords/reference-genome","display_name":"Reference genome","score":0.6098568439483643},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.559011697769165},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.5133270621299744},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4805341362953186},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.48042893409729004},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.46595531702041626},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.44744378328323364},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.42262449860572815},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.248386412858963},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.15550744533538818},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.09368756413459778},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.08767050504684448},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.07862499356269836}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7270539999008179},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.6793496608734131},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6171821355819702},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6150166988372803},{"id":"https://openalex.org/C192953774","wikidata":"https://www.wikidata.org/wiki/Q7307127","display_name":"Reference genome","level":4,"score":0.6098568439483643},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.559011697769165},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5133270621299744},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4805341362953186},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.48042893409729004},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.46595531702041626},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.44744378328323364},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.42262449860572815},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.248386412858963},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.15550744533538818},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.09368756413459778},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.08767050504684448},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.07862499356269836},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/gpbjnl/qzae070","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzae070","pdf_url":"https://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzae070/59639736/qzae070.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:39378130","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39378130","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:11687947","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11687947","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11687947/pdf/qzae070.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"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/qzae070","is_oa":true,"landing_page_url":"https://doi.org/10.1093/gpbjnl/qzae070","pdf_url":"https://academic.oup.com/gpb/advance-article-pdf/doi/10.1093/gpbjnl/qzae070/59639736/qzae070.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":[{"id":"https://openalex.org/G1121271761","display_name":null,"funder_award_id":"Program","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G2087396116","display_name":null,"funder_award_id":"China","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G2201367530","display_name":"Collaborative Research: Uncovering Biology Department Cultural Commitments to Graduate Student Teaching Professional Development","funder_award_id":"2301000","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G3085993365","display_name":null,"funder_award_id":"(Grant No.","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G3317480652","display_name":null,"funder_award_id":"Science","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G391238517","display_name":null,"funder_award_id":", and","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G7578743529","display_name":null,"funder_award_id":"32371537","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G7726157001","display_name":null,"funder_award_id":"Grant No.","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G848032724","display_name":null,"funder_award_id":"Science","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320324787","display_name":"Peking University","ror":"https://ror.org/02v51f717"},{"id":"https://openalex.org/F4320328813","display_name":"Peking University People's Hospital","ror":"https://ror.org/035adwg89"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4403215035.pdf","grobid_xml":"https://content.openalex.org/works/W4403215035.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1968883163","https://openalex.org/W1984068087","https://openalex.org/W1996423252","https://openalex.org/W2084821192","https://openalex.org/W2108996658","https://openalex.org/W2127230663","https://openalex.org/W2165064122","https://openalex.org/W2168909179","https://openalex.org/W2272820807","https://openalex.org/W2396849069","https://openalex.org/W2432815617","https://openalex.org/W2742487486","https://openalex.org/W2990435446","https://openalex.org/W3029661147","https://openalex.org/W3111847480","https://openalex.org/W3131055609","https://openalex.org/W3193517313","https://openalex.org/W3194665116","https://openalex.org/W4205211254","https://openalex.org/W4220999759","https://openalex.org/W4225399233","https://openalex.org/W4291820501","https://openalex.org/W4306809799","https://openalex.org/W4315619277","https://openalex.org/W4318542795","https://openalex.org/W4376133061","https://openalex.org/W4376133202","https://openalex.org/W4380730560","https://openalex.org/W4382344062","https://openalex.org/W4384397989","https://openalex.org/W4385856832","https://openalex.org/W4386091025","https://openalex.org/W4386113054","https://openalex.org/W4386980195","https://openalex.org/W6749378537","https://openalex.org/W6774844944"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W4402567428","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W1973878786"],"abstract_inverted_index":{"Whole-exome":[0],"sequencing":[1],"(WES)":[2],"data":[3],"are":[4,115,164],"frequently":[5],"used":[6,33],"for":[7,82,190],"cancer":[8],"diagnosis":[9],"and":[10,23,48,50,120,145,203],"genome-wide":[11],"association":[12],"studies":[13],"(GWAS),":[14],"based":[15,68],"on":[16,69],"high-coverage":[17],"read":[18],"mapping,":[19],"informative":[20],"variant":[21,158,201],"calling,":[22],"high-quality":[24],"reference":[25,66,193],"genomes.":[26],"The":[27,90],"center":[28],"position":[29],"of":[30,93,110,136,157,160,181,207,216],"the":[31,64,94,98,103,150,187,204,212],"currently":[32],"genome":[34],"assembly,":[35],"GRCh38,":[36,153],"is":[37],"now":[38],"challenged":[39],"by":[40,133],"two":[41],"newly":[42],"published":[43],"telomere-to-telomere":[44],"(T2T)":[45],"genomes,":[46],"T2T-CHM13":[47,177],"T2T-YAO,":[49],"it":[51],"becomes":[52],"urgent":[53],"to":[54,59,107,123,141,198,211],"have":[55],"a":[56],"comparative":[57],"study":[58],"test":[60],"population":[61],"specificity":[62],"using":[63],"three":[65,99],"genomes":[67,194],"real":[70],"case":[71],"WES":[72],"data.":[73],"Here,":[74],"we":[75],"report":[76],"our":[77],"analysis":[78,197,202],"along":[79],"this":[80],"line":[81],"19":[83],"tumor":[84],"samples":[85,151],"collected":[86],"from":[87,118],"Chinese":[88],"patients.":[89],"primary":[91],"comparison":[92],"exon":[95],"regions":[96,112],"among":[97],"references":[100],"reveals":[101],"that":[102],"sequences":[104],"in":[105,113,125,170,178,195],"up":[106],"\u223c":[108],"1%":[109],"target":[111],"T2T-YAO":[114,129,154,174],"widely":[116],"diversified":[117],"GRCh38":[119,132],"may":[121],"lead":[122],"off-target":[124],"sequence":[126],"capture.":[127],"However,":[128],"still":[130],"outperforms":[131,176],"obtaining":[134],"7.41%":[135],"more":[137,142],"mapped":[138],"reads.":[139],"Due":[140],"reliable":[143],"read-mapping":[144],"closer":[146],"phylogenetic":[147],"relationship":[148],"with":[149],"than":[152],"reduces":[155],"half":[156],"calls":[159,180],"clinical":[161],"significance":[162],"which":[163],"mostly":[165],"benign,":[166],"while":[167],"maintaining":[168],"sensitivity":[169],"identifying":[171],"pathogenic":[172],"variants.":[173,183],"also":[175],"reducing":[179],"Chinese-specific":[182],"Our":[184],"findings":[185],"highlight":[186],"critical":[188],"need":[189],"employing":[191],"population-specific":[192],"genomic":[196],"ensure":[199],"accurate":[200],"significant":[205],"benefits":[206],"tailoring":[208],"these":[209],"approaches":[210],"unique":[213],"genetic":[214],"background":[215],"each":[217],"ethnic":[218],"group.":[219]},"counts_by_year":[{"year":2025,"cited_by_count":2}],"updated_date":"2026-04-13T07:58:08.660418","created_date":"2025-10-10T00:00:00"}