{"id":"https://openalex.org/W2149992227","doi":"https://doi.org/10.1093/bioinformatics/btr330","title":"The variant call format and VCFtools","display_name":"The variant call format and VCFtools","publication_year":2011,"publication_date":"2011-06-07","ids":{"openalex":"https://openalex.org/W2149992227","doi":"https://doi.org/10.1093/bioinformatics/btr330","mag":"2149992227","pmid":"https://pubmed.ncbi.nlm.nih.gov/21653522"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btr330","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr330","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/27/15/2156/48863483/bioinformatics_27_15_2156.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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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/27/15/2156/48863483/bioinformatics_27_15_2156.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5038201103","display_name":"Petr Danecek","orcid":"https://orcid.org/0000-0002-4159-1666"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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/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"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Petr Danecek","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047245152","display_name":"Adam Auton","orcid":"https://orcid.org/0000-0002-1630-1225"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Adam Auton","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078559681","display_name":"Gon\u00e7alo R. Abecasis","orcid":"https://orcid.org/0000-0003-1509-1825"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Goncalo Abecasis","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039983345","display_name":"Cornelis A. Albers","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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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","US"],"is_corresponding":false,"raw_author_name":"Cornelis A. Albers","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029475781","display_name":"Eric Banks","orcid":"https://orcid.org/0000-0001-9615-2372"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Eric Banks","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055476069","display_name":"Mark A. DePristo","orcid":"https://orcid.org/0000-0001-9928-045X"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Mark A. DePristo","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054867399","display_name":"Robert E. Handsaker","orcid":"https://orcid.org/0000-0002-3128-3547"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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/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"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Robert E. Handsaker","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062526316","display_name":"Gerton Lunter","orcid":"https://orcid.org/0000-0002-3798-2058"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Gerton Lunter","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000369565","display_name":"G\u00e1bor Marth","orcid":"https://orcid.org/0000-0003-0222-1694"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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/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"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Gabor T. Marth","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085914713","display_name":"Stephen T. Sherry","orcid":"https://orcid.org/0000-0002-7982-076X"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Stephen T. Sherry","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000481707","display_name":"Gil McVean","orcid":"https://orcid.org/0000-0002-5012-4162"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Gilean McVean","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082040351","display_name":"Richard Durbin","orcid":"https://orcid.org/0000-0002-9130-1006"},"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/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"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","US"],"is_corresponding":true,"raw_author_name":"Richard Durbin","raw_affiliation_strings":["1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK"],"affiliations":[{"raw_affiliation_string":"1 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, 2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK, 3Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, 4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, 5Department of Biology, Boston College, MA 02467, 6National Institutes of Health National Center for Biotechnology Information, MD 20894, USA and 7Department of Statistics, University of Oxford, Oxford OX1 3TG, UK","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I2802476451","https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":null,"display_name":"1000 Genomes Project Analysis Group","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"1000 Genomes Project Analysis Group","raw_affiliation_strings":[],"affiliations":[]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":13,"corresponding_author_ids":["https://openalex.org/A5082040351"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I1336263701","https://openalex.org/I2802476451"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":60.9674,"has_fulltext":true,"cited_by_count":17362,"citation_normalized_percentile":{"value":0.99965571,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"27","issue":"15","first_page":"2156","last_page":"2158"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9998000264167786,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9998000264167786,"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/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9732999801635742,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9718000292778015,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/dbsnp","display_name":"dbSNP","score":0.8018985390663147},{"id":"https://openalex.org/keywords/perl","display_name":"Perl","score":0.7651614546775818},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6644801497459412},{"id":"https://openalex.org/keywords/suite","display_name":"Suite","score":0.5848119258880615},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.5735538601875305},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.5672910809516907},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.46321162581443787},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.36918359994888306},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.30413755774497986},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.27272576093673706},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.22410982847213745},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.20370519161224365},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.20119285583496094},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.15234750509262085},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.11835461854934692},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.09557333588600159},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.07835322618484497}],"concepts":[{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.8018985390663147},{"id":"https://openalex.org/C2777002779","wikidata":"https://www.wikidata.org/wiki/Q42478","display_name":"Perl","level":2,"score":0.7651614546775818},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6644801497459412},{"id":"https://openalex.org/C79581498","wikidata":"https://www.wikidata.org/wiki/Q1367530","display_name":"Suite","level":2,"score":0.5848119258880615},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.5735538601875305},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5672910809516907},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.46321162581443787},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.36918359994888306},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.30413755774497986},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.27272576093673706},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.22410982847213745},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20370519161224365},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20119285583496094},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.15234750509262085},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.11835461854934692},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09557333588600159},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.07835322618484497},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","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":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1093/bioinformatics/btr330","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr330","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/27/15/2156/48863483/bioinformatics_27_15_2156.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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:21653522","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21653522","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:jupiter.its.unimelb.edu.au:11343/258213","is_oa":true,"landing_page_url":"http://hdl.handle.net/11343/258213","pdf_url":"http://hdl.handle.net/11343/258213","source":{"id":"https://openalex.org/S4377196259","display_name":"Minerva Access (University of Melbourne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I165779595","host_organization_name":"The University of Melbourne","host_organization_lineage":["https://openalex.org/I165779595"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.952.6993","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.952.6993","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://bioinformatics.oxfordjournals.org/content/early/2011/06/07/bioinformatics.btr330.full.pdf","raw_type":"text"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1533458","is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1533458/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"   BIOINFORMATICS , 27  (15)   pp. 2156-2158.   (2011)      ","raw_type":"Article"},{"id":"pmh:oai:open-archive.highwire.org:bioinfo:27/15/2156","is_oa":false,"landing_page_url":"http://bioinformatics.oxfordjournals.org/cgi/content/short/27/15/2156","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","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":"","raw_type":"TEXT"},{"id":"pmh:oai:ora.ox.ac.uk:uuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496d","is_oa":false,"landing_page_url":"https://ora.ox.ac.uk/objects/uuid:065b1c9a-2a19-4ea2-b5e7-5802d0d3496d","pdf_url":null,"source":{"id":"https://openalex.org/S4306402636","display_name":"Oxford University Research Archive (ORA) (University of Oxford)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I40120149","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/I40120149"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PubMed (http://www.ncbi.nlm.nih.gov/pubmed/)","raw_type":"Journal article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3137218","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3137218","pdf_url":null,"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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btr330","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btr330","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/27/15/2156/48863483/bioinformatics_27_15_2156.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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/17","score":0.46000000834465027,"display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G1040614975","display_name":null,"funder_award_id":"075491/Z/04","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G1606511277","display_name":null,"funder_award_id":"090532/Z/09/Z","funder_id":"https://openalex.org/F4320319992","funder_display_name":"British Heart Foundation"},{"id":"https://openalex.org/G564567861","display_name":null,"funder_award_id":"075491/Z/04","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6345853531","display_name":null,"funder_award_id":"unknown","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6551454886","display_name":null,"funder_award_id":"HG004719","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7004411822","display_name":null,"funder_award_id":"090532","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G7697027516","display_name":null,"funder_award_id":"HG003067","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8946600302","display_name":null,"funder_award_id":"090532/Z/09/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G8975541179","display_name":null,"funder_award_id":"090532/Z/09/","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/F4320319992","display_name":"British Heart Foundation","ror":"https://ror.org/02wdwnk04"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2149992227.pdf","grobid_xml":"https://content.openalex.org/works/W2149992227.grobid-xml"},"referenced_works_count":5,"referenced_works":["https://openalex.org/W2107133912","https://openalex.org/W2108234281","https://openalex.org/W2119180969","https://openalex.org/W2171777347","https://openalex.org/W2885727518"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2043256480","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W2094815267","https://openalex.org/W1983406990","https://openalex.org/W2484239316","https://openalex.org/W2018130645","https://openalex.org/W1174898457"],"abstract_inverted_index":{"http://vcftools.sourceforge.net":[0]},"counts_by_year":[{"year":2026,"cited_by_count":608},{"year":2025,"cited_by_count":2322},{"year":2024,"cited_by_count":2668},{"year":2023,"cited_by_count":2005},{"year":2022,"cited_by_count":2070},{"year":2021,"cited_by_count":2082},{"year":2020,"cited_by_count":1582},{"year":2019,"cited_by_count":1165},{"year":2018,"cited_by_count":923},{"year":2017,"cited_by_count":658},{"year":2016,"cited_by_count":474},{"year":2015,"cited_by_count":334},{"year":2014,"cited_by_count":246},{"year":2013,"cited_by_count":121},{"year":2012,"cited_by_count":69}],"updated_date":"2026-04-16T08:26:57.006410","created_date":"2025-10-10T00:00:00"}