{"id":"https://openalex.org/W3036652808","doi":"https://doi.org/10.1093/bib/bbaa084","title":"Using off-target data from whole-exome sequencing to improve genotyping accuracy, association analysis and polygenic risk prediction","display_name":"Using off-target data from whole-exome sequencing to improve genotyping accuracy, association analysis and polygenic risk prediction","publication_year":2020,"publication_date":"2020-04-22","ids":{"openalex":"https://openalex.org/W3036652808","doi":"https://doi.org/10.1093/bib/bbaa084","mag":"3036652808","pmid":"https://pubmed.ncbi.nlm.nih.gov/32591784"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbaa084","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbaa084","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101843264","display_name":"Jinzhuang Dou","orcid":"https://orcid.org/0000-0003-0090-4264"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jinzhuang Dou","raw_affiliation_strings":["School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045372616","display_name":"Degang Wu","orcid":"https://orcid.org/0000-0002-2326-0468"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Degang Wu","raw_affiliation_strings":["School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":"https://orcid.org/0000-0002-2326-0468","affiliations":[{"raw_affiliation_string":"School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103209755","display_name":"Lin Ding","orcid":"https://orcid.org/0009-0005-2682-3106"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lin Ding","raw_affiliation_strings":["School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100437036","display_name":"Kai Wang","orcid":"https://orcid.org/0000-0002-6170-4744"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Kai Wang","raw_affiliation_strings":["School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101950147","display_name":"Minghui Jiang","orcid":"https://orcid.org/0000-0002-7888-2408"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Minghui Jiang","raw_affiliation_strings":["School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111559056","display_name":"Xiaoran Chai","orcid":null},"institutions":[{"id":"https://openalex.org/I2799299286","display_name":"Singapore National Eye Center","ror":"https://ror.org/029nvrb94","country_code":"SG","type":"healthcare","lineage":["https://openalex.org/I2799299286"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Xiaoran Chai","raw_affiliation_strings":["Singapore National Eye Centre, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Singapore National Eye Centre, Singapore","institution_ids":["https://openalex.org/I2799299286"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025511627","display_name":"Dermot F. Reilly","orcid":"https://orcid.org/0000-0002-9456-1364"},"institutions":[{"id":"https://openalex.org/I1285764155","display_name":"Merck & Co., Inc., Rahway, NJ, USA (United States)","ror":"https://ror.org/02891sr49","country_code":"US","type":"company","lineage":["https://openalex.org/I1285764155"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dermot F Reilly","raw_affiliation_strings":["Merck Research Laboratories, Kenilworth, NJ, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Merck Research Laboratories, Kenilworth, NJ, USA","institution_ids":["https://openalex.org/I1285764155"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049068947","display_name":"E Shyong Tai","orcid":"https://orcid.org/0000-0003-2929-8966"},"institutions":[{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]},{"id":"https://openalex.org/I4210126319","display_name":"Duke-NUS Medical School","ror":"https://ror.org/02j1m6098","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596","https://openalex.org/I170897317","https://openalex.org/I4210126319"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"E Shyong Tai","raw_affiliation_strings":["Saw Swee Hock School of Public Health, Duke-NUS Medical School, and Yong Loo Lin School of Medicine, National University of Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Saw Swee Hock School of Public Health, Duke-NUS Medical School, and Yong Loo Lin School of Medicine, National University of Singapore, Singapore","institution_ids":["https://openalex.org/I165932596","https://openalex.org/I4210126319"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100374993","display_name":"Jianjun Liu","orcid":"https://orcid.org/0000-0002-3255-3019"},"institutions":[{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]},{"id":"https://openalex.org/I66068411","display_name":"Genome Institute of Singapore","ror":"https://ror.org/05k8wg936","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I66068411"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Jianjun Liu","raw_affiliation_strings":["Genome Institute of Singapore and a professor at Yong Loo Lin School of Medicine, National University of Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Institute of Singapore and a professor at Yong Loo Lin School of Medicine, National University of Singapore, Singapore","institution_ids":["https://openalex.org/I66068411","https://openalex.org/I165932596"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008481316","display_name":"Xueling Sim","orcid":"https://orcid.org/0000-0002-1233-7642"},"institutions":[{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]},{"id":"https://openalex.org/I4210150261","display_name":"National University Health System","ror":"https://ror.org/05tjjsh18","country_code":"SG","type":"education","lineage":["https://openalex.org/I4210150261"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Xueling Sim","raw_affiliation_strings":["Saw Swee Hock School of Public Health, National University of Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Saw Swee Hock School of Public Health, National University of Singapore, Singapore","institution_ids":["https://openalex.org/I4210150261","https://openalex.org/I165932596"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090063533","display_name":"Shanshan Cheng","orcid":"https://orcid.org/0000-0003-2676-7341"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Shanshan Cheng","raw_affiliation_strings":["Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028963399","display_name":"Chaolong Wang","orcid":"https://orcid.org/0000-0003-3945-1012"},"institutions":[{"id":"https://openalex.org/I47720641","display_name":"Huazhong University of Science and Technology","ror":"https://ror.org/00p991c53","country_code":"CN","type":"education","lineage":["https://openalex.org/I47720641"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Chaolong Wang","raw_affiliation_strings":["Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China"],"raw_orcid":"https://orcid.org/0000-0003-3945-1012","affiliations":[{"raw_affiliation_string":"Ministry of Education Key Laboratory for Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China","institution_ids":["https://openalex.org/I47720641"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5028963399","https://openalex.org/A5090063533"],"corresponding_institution_ids":["https://openalex.org/I47720641"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":null,"fwci":2.055,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.87039442,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"22","issue":"3","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998000264167786,"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"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998000264167786,"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/T11482","display_name":"RNA modifications and cancer","score":0.9926000237464905,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9922000169754028,"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/genotyping","display_name":"Genotyping","score":0.7675284147262573},{"id":"https://openalex.org/keywords/polygenic-risk-score","display_name":"Polygenic risk score","score":0.7019096612930298},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.6206925511360168},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5319429039955139},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4678930342197418},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.45210832357406616},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4507444500923157},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.4281460642814636},{"id":"https://openalex.org/keywords/association","display_name":"Association (psychology)","score":0.41067713499069214},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3182221055030823},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2979273796081543},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.28095149993896484},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.243057519197464},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.15857374668121338},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12162256240844727},{"id":"https://openalex.org/keywords/psychology","display_name":"Psychology","score":0.07352754473686218}],"concepts":[{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.7675284147262573},{"id":"https://openalex.org/C2993137441","wikidata":"https://www.wikidata.org/wiki/Q28135712","display_name":"Polygenic risk score","level":5,"score":0.7019096612930298},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6206925511360168},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5319429039955139},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4678930342197418},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.45210832357406616},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4507444500923157},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4281460642814636},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.41067713499069214},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3182221055030823},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2979273796081543},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28095149993896484},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.243057519197464},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.15857374668121338},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12162256240844727},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.07352754473686218},{"id":"https://openalex.org/C542102704","wikidata":"https://www.wikidata.org/wiki/Q183257","display_name":"Psychotherapist","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D001457","descriptor_name":"Anion Exchange Protein 1, Erythrocyte","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001457","descriptor_name":"Anion Exchange Protein 1, Erythrocyte","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001457","descriptor_name":"Anion Exchange Protein 1, Erythrocyte","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/bib/bbaa084","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbaa084","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:32591784","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32591784","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":"Briefings in bioinformatics","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G5071979504","display_name":null,"funder_award_id":"03/1/27/18/216","funder_id":"https://openalex.org/F4320335846","funder_display_name":"Biomedical Research Council"},{"id":"https://openalex.org/G5254488105","display_name":null,"funder_award_id":"05/1/21/19/425","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"},{"id":"https://openalex.org/G6355659037","display_name":null,"funder_award_id":"NSFC 81973148","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G7135572328","display_name":null,"funder_award_id":"11/1/21/19/678","funder_id":"https://openalex.org/F4320320671","funder_display_name":"National Research Foundation"},{"id":"https://openalex.org/G8089604918","display_name":null,"funder_award_id":"0838/2004","funder_id":"https://openalex.org/F4320334737","funder_display_name":"National Medical Research Council"}],"funders":[{"id":"https://openalex.org/F4320320671","display_name":"National Research Foundation","ror":"https://ror.org/05s0g1g46"},{"id":"https://openalex.org/F4320320697","display_name":"Ministry of Health -Singapore","ror":"https://ror.org/00mrhvv69"},{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320334737","display_name":"National Medical Research Council","ror":"https://ror.org/04x3cxs03"},{"id":"https://openalex.org/F4320335846","display_name":"Biomedical Research Council","ror":"https://ror.org/03xy0wx88"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":73,"referenced_works":["https://openalex.org/W1533942137","https://openalex.org/W1572402121","https://openalex.org/W1966026613","https://openalex.org/W1971237575","https://openalex.org/W1973878786","https://openalex.org/W1979543168","https://openalex.org/W1980168725","https://openalex.org/W1986550414","https://openalex.org/W1989918771","https://openalex.org/W1994185989","https://openalex.org/W2017395110","https://openalex.org/W2050822611","https://openalex.org/W2050838276","https://openalex.org/W2056198580","https://openalex.org/W2061596350","https://openalex.org/W2074289124","https://openalex.org/W2076154138","https://openalex.org/W2077470012","https://openalex.org/W2082536587","https://openalex.org/W2082704080","https://openalex.org/W2084347413","https://openalex.org/W2091044076","https://openalex.org/W2095680943","https://openalex.org/W2099328768","https://openalex.org/W2102213696","https://openalex.org/W2103735661","https://openalex.org/W2104549677","https://openalex.org/W2107549082","https://openalex.org/W2108996658","https://openalex.org/W2110523081","https://openalex.org/W2113547573","https://openalex.org/W2127288683","https://openalex.org/W2128505445","https://openalex.org/W2130259798","https://openalex.org/W2133520037","https://openalex.org/W2139224067","https://openalex.org/W2153118028","https://openalex.org/W2155496693","https://openalex.org/W2159738130","https://openalex.org/W2163013660","https://openalex.org/W2168133698","https://openalex.org/W2171372458","https://openalex.org/W2195783463","https://openalex.org/W2198755677","https://openalex.org/W2230276206","https://openalex.org/W2256016639","https://openalex.org/W2259938310","https://openalex.org/W2405373297","https://openalex.org/W2470746372","https://openalex.org/W2511515754","https://openalex.org/W2514982885","https://openalex.org/W2519244818","https://openalex.org/W2550031966","https://openalex.org/W2559028527","https://openalex.org/W2587257410","https://openalex.org/W2587842530","https://openalex.org/W2725988230","https://openalex.org/W2732879716","https://openalex.org/W2756557004","https://openalex.org/W2810653208","https://openalex.org/W2886752110","https://openalex.org/W2902144856","https://openalex.org/W2932671560","https://openalex.org/W2951038513","https://openalex.org/W2956842929","https://openalex.org/W2958615822","https://openalex.org/W2968948476","https://openalex.org/W2980991786","https://openalex.org/W2991032843","https://openalex.org/W4394666350","https://openalex.org/W6674561012","https://openalex.org/W6713925677","https://openalex.org/W6770785829"],"related_works":["https://openalex.org/W2093932542","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/W2484239316","https://openalex.org/W3024198590"],"abstract_inverted_index":{"Whole-exome":[0],"sequencing":[1,131],"(WES)":[2],"has":[3],"been":[4],"widely":[5],"used":[6],"to":[7,41,62,69,89,234],"study":[8,54],"the":[9,79,104],"role":[10],"of":[11,71,141,146,216,241],"protein-coding":[12],"variants":[13],"in":[14,103],"genetic":[15],"diseases.":[16],"Non-coding":[17],"regions,":[18],"typically":[19],"covered":[20],"by":[21,28,219],"sparse":[22],"off-target":[23,46,125,221,242],"data,":[24],"are":[25,177],"often":[26],"discarded":[27],"conventional":[29],"WES":[30,70,236],"analyses.":[31],"Here,":[32],"we":[33,110,136,151,203],"develop":[34],"a":[35,231],"genotype":[36,80],"calling":[37],"pipeline":[38],"named":[39],"WEScall":[40,76,229],"analyse":[42],"both":[43,171],"target":[44,107],"and":[45,56,74,185,200],"data.":[47,243],"We":[48],"leverage":[49],"linkage":[50],"disequilibrium":[51],"shared":[52],"within":[53],"samples":[55],"from":[57,83,197],"an":[58,67],"external":[59],"reference":[60],"panel":[61],"improve":[63],"genotyping":[64],"accuracy.":[65],"In":[66],"application":[68],"2527":[72],"Chinese":[73],"Malays,":[75],"can":[77,209],"reduce":[78],"discordance":[81,120],"rate":[82,121],"0.26%":[84],"(SE=":[85],"6.4":[86],"\u00d7":[87,94,118,161,183,191],"10-6)":[88,95,119],"0.08%":[90],"(SE":[91,115],"=":[92,116,181,189],"3.6":[93],"across":[96,122],"1.1":[97],"million":[98,124],"single":[99],"nucleotide":[100],"polymorphisms":[101],"(SNPs)":[102],"deeply":[105],"sequenced":[106],"regions.":[108],"Furthermore,":[109],"obtain":[111],"genotypes":[112],"at":[113,155],"0.70%":[114],"3.0":[117],"5.2":[123],"SNPs,":[126],"which":[127],"had":[128],"~1.2\u00d7":[129],"mean":[130],"depth.":[132],"Using":[133],"this":[134],"dataset,":[135],"perform":[137],"genome-wide":[138,156],"association":[139],"studies":[140,237],"10":[142,153],"metabolic":[143],"traits.":[144],"Despite":[145],"our":[147],"small":[148],"sample":[149],"size,":[150],"identify":[152],"loci":[154],"significance":[157],"(P":[158,223],"<":[159,224],"5":[160],"10-8),":[162],"including":[163],"eight":[164],"well-established":[165],"loci.":[166],"The":[167],"two":[168],"novel":[169],"loci,":[170],"associated":[172],"with":[173,238],"glycated":[174],"haemoglobin":[175],"levels,":[176],"GPATCH8-SLC4A1":[178],"(rs369762319,":[179],"P":[180,188],"2.56":[182],"10-12)":[184],"ROR2":[186],"(rs1201042,":[187],"3.24":[190],"10-8).":[192],"Finally,":[193],"using":[194],"summary":[195],"statistics":[196],"UK":[198],"Biobank":[199,201],"Japan,":[202],"show":[204],"that":[205],"polygenic":[206],"risk":[207],"prediction":[208],"be":[210],"significantly":[211],"improved":[212],"for":[213],"six":[214],"out":[215],"nine":[217],"traits":[218],"incorporating":[220],"data":[222],"0.01).":[225],"These":[226],"results":[227],"demonstrate":[228],"as":[230],"useful":[232],"tool":[233],"facilitate":[235],"decent":[239],"amounts":[240]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}