{"id":"https://openalex.org/W2949838375","doi":"https://doi.org/10.1093/bioinformatics/bty1032","title":"Very low-depth whole-genome sequencing in complex trait association studies","display_name":"Very low-depth whole-genome sequencing in complex trait association studies","publication_year":2018,"publication_date":"2018-12-17","ids":{"openalex":"https://openalex.org/W2949838375","doi":"https://doi.org/10.1093/bioinformatics/bty1032","mag":"2949838375","pmid":"https://pubmed.ncbi.nlm.nih.gov/30576415"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bty1032","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty1032","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/35/15/2555/29012528/bty1032.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/35/15/2555/29012528/bty1032.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045859848","display_name":"Arthur Gilly","orcid":"https://orcid.org/0000-0002-3190-4358"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]},{"id":"https://openalex.org/I3018134672","display_name":"Helmholtz Zentrum M\u00fcnchen","ror":"https://ror.org/00cfam450","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I3018134672"]}],"countries":["DE","GB"],"is_corresponding":false,"raw_author_name":"Arthur Gilly","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen \u2013 German Research Center for Environmental Health, Neuherberg, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen \u2013 German Research Center for Environmental Health, Neuherberg, Germany","institution_ids":["https://openalex.org/I3018134672"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057936285","display_name":"Lorraine Southam","orcid":null},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lorraine Southam","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076646214","display_name":"D\u00e1niel S\u00fcveges","orcid":"https://orcid.org/0000-0003-4133-0447"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Daniel Suveges","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012612647","display_name":"Karoline Kuchenbaecker","orcid":"https://orcid.org/0000-0001-9726-603X"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Karoline Kuchenbaecker","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049404436","display_name":"Rachel Moore","orcid":"https://orcid.org/0000-0002-0293-1322"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rachel Moore","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038231164","display_name":"Giorgio Melloni","orcid":"https://orcid.org/0000-0001-6371-1334"},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Giorgio E M Melloni","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043433946","display_name":"Konstantinos Hatzikotoulas","orcid":"https://orcid.org/0000-0002-4699-3672"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]},{"id":"https://openalex.org/I3018134672","display_name":"Helmholtz Zentrum M\u00fcnchen","ror":"https://ror.org/00cfam450","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I3018134672"]}],"countries":["DE","GB"],"is_corresponding":false,"raw_author_name":"Konstantinos Hatzikotoulas","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen \u2013 German Research Center for Environmental Health, Neuherberg, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen \u2013 German Research Center for Environmental Health, Neuherberg, Germany","institution_ids":["https://openalex.org/I3018134672"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083404248","display_name":"Aliki\u2010Eleni Farmaki","orcid":"https://orcid.org/0000-0003-3379-0793"},"institutions":[{"id":"https://openalex.org/I32762134","display_name":"Harokopio University of Athens","ror":"https://ror.org/02k5gp281","country_code":"GR","type":"education","lineage":["https://openalex.org/I32762134"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Aliki-Eleni Farmaki","raw_affiliation_strings":["Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, Greece"],"affiliations":[{"raw_affiliation_string":"Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, Greece","institution_ids":["https://openalex.org/I32762134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043702825","display_name":"Graham R. S. Ritchie","orcid":"https://orcid.org/0000-0002-6456-9736"},"institutions":[{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]},{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Graham Ritchie","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038553084","display_name":"Jeremy Schwartzentruber","orcid":"https://orcid.org/0000-0002-6183-2092"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jeremy Schwartzentruber","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038201103","display_name":"Petr Danecek","orcid":"https://orcid.org/0000-0002-4159-1666"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Petr Danecek","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063211092","display_name":"Britt Kilian","orcid":"https://orcid.org/0000-0003-1493-2768"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Britt Kilian","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030711232","display_name":"Martin Pollard","orcid":"https://orcid.org/0000-0001-8738-0920"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Martin O Pollard","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085961103","display_name":"Xiangyu Ge","orcid":"https://orcid.org/0000-0001-5048-8081"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Xiangyu Ge","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073344252","display_name":"Emmanouil Tsafantakis","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emmanouil Tsafantakis","raw_affiliation_strings":["Anogia Medical Centre, Anogia, Greece"],"affiliations":[{"raw_affiliation_string":"Anogia Medical Centre, Anogia, Greece","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022974046","display_name":"George Dedoussis","orcid":"https://orcid.org/0000-0002-7798-6221"},"institutions":[{"id":"https://openalex.org/I32762134","display_name":"Harokopio University of Athens","ror":"https://ror.org/02k5gp281","country_code":"GR","type":"education","lineage":["https://openalex.org/I32762134"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"George Dedoussis","raw_affiliation_strings":["Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, Greece"],"affiliations":[{"raw_affiliation_string":"Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, Athens, Greece","institution_ids":["https://openalex.org/I32762134"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031210932","display_name":"Eleftheria Zeggini","orcid":"https://orcid.org/0000-0003-4238-659X"},"institutions":[{"id":"https://openalex.org/I2802476451","display_name":"Wellcome Sanger Institute","ror":"https://ror.org/05cy4wa09","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802476451","https://openalex.org/I87048295"]},{"id":"https://openalex.org/I3018134672","display_name":"Helmholtz Zentrum M\u00fcnchen","ror":"https://ror.org/00cfam450","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I3018134672"]}],"countries":["DE","GB"],"is_corresponding":true,"raw_author_name":"Eleftheria Zeggini","raw_affiliation_strings":["Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen \u2013 German Research Center for Environmental Health, Neuherberg, Germany"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I2802476451"]},{"raw_affiliation_string":"Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen \u2013 German Research Center for Environmental Health, Neuherberg, Germany","institution_ids":["https://openalex.org/I3018134672"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":17,"corresponding_author_ids":["https://openalex.org/A5031210932"],"corresponding_institution_ids":["https://openalex.org/I2802476451","https://openalex.org/I3018134672"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":7.9688,"has_fulltext":false,"cited_by_count":106,"citation_normalized_percentile":{"value":0.97825364,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"35","issue":"15","first_page":"2555","last_page":"2561"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998999834060669,"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":0.9998999834060669,"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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":0.9983000159263611,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.9965000152587891,"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/genome-wide-association-study","display_name":"Genome-wide association study","score":0.7073399424552917},{"id":"https://openalex.org/keywords/concordance","display_name":"Concordance","score":0.6663616895675659},{"id":"https://openalex.org/keywords/genotyping","display_name":"Genotyping","score":0.5931039452552795},{"id":"https://openalex.org/keywords/minor-allele-frequency","display_name":"Minor allele frequency","score":0.5753158926963806},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5624151825904846},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.554741382598877},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"Whole genome sequencing","score":0.5391806364059448},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5055932998657227},{"id":"https://openalex.org/keywords/trait","display_name":"Trait","score":0.4716094136238098},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.46905070543289185},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.4626520574092865},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.4449017643928528},{"id":"https://openalex.org/keywords/deep-sequencing","display_name":"Deep sequencing","score":0.43942713737487793},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4391612112522125},{"id":"https://openalex.org/keywords/imputation","display_name":"Imputation (statistics)","score":0.4343586564064026},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.4091196060180664},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"Allele frequency","score":0.3954179883003235},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.387840211391449},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.329969197511673},{"id":"https://openalex.org/keywords/missing-data","display_name":"Missing data","score":0.2882230877876282},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.2714438736438751},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.25699692964553833},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.12953996658325195},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.11859071254730225},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.0899096429347992}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7073399424552917},{"id":"https://openalex.org/C160798450","wikidata":"https://www.wikidata.org/wiki/Q4230870","display_name":"Concordance","level":2,"score":0.6663616895675659},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.5931039452552795},{"id":"https://openalex.org/C157410074","wikidata":"https://www.wikidata.org/wiki/Q6869145","display_name":"Minor allele frequency","level":5,"score":0.5753158926963806},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5624151825904846},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.554741382598877},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.5391806364059448},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5055932998657227},{"id":"https://openalex.org/C106934330","wikidata":"https://www.wikidata.org/wiki/Q1971873","display_name":"Trait","level":2,"score":0.4716094136238098},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.46905070543289185},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.4626520574092865},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.4449017643928528},{"id":"https://openalex.org/C132917006","wikidata":"https://www.wikidata.org/wiki/Q5250436","display_name":"Deep sequencing","level":4,"score":0.43942713737487793},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4391612112522125},{"id":"https://openalex.org/C58041806","wikidata":"https://www.wikidata.org/wiki/Q1660484","display_name":"Imputation (statistics)","level":3,"score":0.4343586564064026},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4091196060180664},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.3954179883003235},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.387840211391449},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.329969197511673},{"id":"https://openalex.org/C9357733","wikidata":"https://www.wikidata.org/wiki/Q6878417","display_name":"Missing data","level":2,"score":0.2882230877876282},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2714438736438751},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.25699692964553833},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12953996658325195},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.11859071254730225},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.0899096429347992},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","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":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","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":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/bty1032","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty1032","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/35/15/2555/29012528/bty1032.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:30576415","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30576415","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:europepmc.org:5625138","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6662288","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"},{"id":"pmh:oai:opus-zb.helmholtz-muenchen.de:56392","is_oa":true,"landing_page_url":"https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=56392","pdf_url":null,"source":{"id":"https://openalex.org/S4377196115","display_name":"Site cant be reached","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics 35, 2555-2561 (2019)","raw_type":"Text"},{"id":"pmh:oai:push-zb.helmholtz-munich.de:56392","is_oa":false,"landing_page_url":"https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=56392","pdf_url":null,"source":{"id":"https://openalex.org/S7407055352","display_name":"PuSH - Publication Server of Helmholtz Zentrum M\u00fcnchen","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics 35, 2555-2561 (2019)","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/bty1032","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bty1032","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/35/15/2555/29012528/bty1032.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G125221289","display_name":null,"funder_award_id":"ERC-2011-StG 280559-SEPI","funder_id":"https://openalex.org/F4320338335","funder_display_name":"H2020 European Research Council"},{"id":"https://openalex.org/G8491121283","display_name":null,"funder_award_id":"WT091310","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8666890344","display_name":null,"funder_award_id":"098051","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320338335","display_name":"H2020 European Research Council","ror":"https://ror.org/0472cxd90"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2949838375.pdf","grobid_xml":"https://content.openalex.org/works/W2949838375.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W1627352250","https://openalex.org/W1907868928","https://openalex.org/W1979543168","https://openalex.org/W1980168725","https://openalex.org/W1980887908","https://openalex.org/W1992436001","https://openalex.org/W2006085701","https://openalex.org/W2015022780","https://openalex.org/W2026884584","https://openalex.org/W2042863127","https://openalex.org/W2058662042","https://openalex.org/W2104549677","https://openalex.org/W2108234281","https://openalex.org/W2119180969","https://openalex.org/W2138345444","https://openalex.org/W2172271755","https://openalex.org/W2230276206","https://openalex.org/W2346229358","https://openalex.org/W2474836229","https://openalex.org/W2511515754","https://openalex.org/W2550031966","https://openalex.org/W2619135473","https://openalex.org/W2620270887","https://openalex.org/W2737435306","https://openalex.org/W2765868800","https://openalex.org/W2783456390","https://openalex.org/W2827308506","https://openalex.org/W2951529834","https://openalex.org/W2952018432","https://openalex.org/W2953053177","https://openalex.org/W6742028749"],"related_works":["https://openalex.org/W4286002085","https://openalex.org/W2122946544","https://openalex.org/W2178628622","https://openalex.org/W4381248205","https://openalex.org/W4387141664","https://openalex.org/W1968654496","https://openalex.org/W2216458865","https://openalex.org/W2077116940","https://openalex.org/W2937050434","https://openalex.org/W2511515754"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":11},{"year":2024,"cited_by_count":12},{"year":2023,"cited_by_count":18},{"year":2022,"cited_by_count":20},{"year":2021,"cited_by_count":19},{"year":2020,"cited_by_count":11},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":4}],"updated_date":"2026-04-09T08:11:56.329763","created_date":"2025-10-10T00:00:00"}
