{"id":"https://openalex.org/W2940517989","doi":"https://doi.org/10.1093/bioinformatics/btz202","title":"ORE identifies extreme expression effects enriched for rare variants","display_name":"ORE identifies extreme expression effects enriched for rare variants","publication_year":2019,"publication_date":"2019-03-20","ids":{"openalex":"https://openalex.org/W2940517989","doi":"https://doi.org/10.1093/bioinformatics/btz202","mag":"2940517989","pmid":"https://pubmed.ncbi.nlm.nih.gov/30903145"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btz202","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz202","pdf_url":null,"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":null,"license_id":null,"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":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6792115","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066032921","display_name":"Felix Richter","orcid":"https://orcid.org/0000-0003-3429-9621"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Richter","raw_affiliation_strings":["Graduate School of Biomedical Sciences"],"affiliations":[{"raw_affiliation_string":"Graduate School of Biomedical Sciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046862823","display_name":"Gabriel E. Hoffman","orcid":"https://orcid.org/0000-0002-0957-0224"},"institutions":[{"id":"https://openalex.org/I4210151791","display_name":"Genomics (United Kingdom)","ror":"https://ror.org/053a6xa29","country_code":"GB","type":"company","lineage":["https://openalex.org/I4210151791"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"G E Hoffman","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","Icahn Institute for Genomics and Multiscale Biology"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Icahn Institute for Genomics and Multiscale Biology","institution_ids":["https://openalex.org/I4210151791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017597589","display_name":"Kathryn B. Manheimer","orcid":"https://orcid.org/0000-0003-0421-5773"},"institutions":[{"id":"https://openalex.org/I4210110193","display_name":"Sema4 (United States)","ror":"https://ror.org/01nprxv78","country_code":"US","type":"company","lineage":["https://openalex.org/I4210110193"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K B Manheimer","raw_affiliation_strings":["Sema4, A Mount Sinai Venture , Stamford, CT, USA"],"affiliations":[{"raw_affiliation_string":"Sema4, A Mount Sinai Venture , Stamford, CT, USA","institution_ids":["https://openalex.org/I4210110193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077475709","display_name":"Nihir Patel","orcid":"https://orcid.org/0000-0002-4253-3097"},"institutions":[{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]},{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N Patel","raw_affiliation_strings":["Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA"],"affiliations":[{"raw_affiliation_string":"Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I4210111958","https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073039943","display_name":"Andrew J. Sharp","orcid":"https://orcid.org/0000-0003-1415-5129"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]},{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A J Sharp","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I4210111958","https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066173632","display_name":"David McKean","orcid":"https://orcid.org/0000-0001-9023-7666"},"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":"D McKean","raw_affiliation_strings":["Department of Genetics, Harvard Medical School , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School , Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027085835","display_name":"Sarah U. Morton","orcid":"https://orcid.org/0000-0002-7816-2646"},"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":"S U Morton","raw_affiliation_strings":["Department of Genetics, Harvard Medical School , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School , Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058070931","display_name":"Steven R. DePalma","orcid":"https://orcid.org/0000-0002-0381-5016"},"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":"S DePalma","raw_affiliation_strings":["Department of Genetics, Harvard Medical School , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School , Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034293245","display_name":"Josh Gorham","orcid":null},"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":"J Gorham","raw_affiliation_strings":["Department of Genetics, Harvard Medical School , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School , Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043162508","display_name":"A Kitaygorodksy","orcid":null},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A Kitaygorodksy","raw_affiliation_strings":["Department of Systems Biology, Columbia University , New York, NY, USA"],"affiliations":[{"raw_affiliation_string":"Department of Systems Biology, Columbia University , New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057789350","display_name":"George A. Porter","orcid":"https://orcid.org/0000-0003-0726-9988"},"institutions":[{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medical Center","ror":"https://ror.org/00trqv719","country_code":"US","type":"funder","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"G A Porter","raw_affiliation_strings":["Department of Pediatrics, University of Rochester Medical Center , Rochester, NY, USA"],"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University of Rochester Medical Center , Rochester, NY, USA","institution_ids":["https://openalex.org/I28792581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072875726","display_name":"Anna Giardini","orcid":"https://orcid.org/0000-0002-2845-347X"},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A Giardini","raw_affiliation_strings":["Cardiorespiratory Unit, Great Ormond Street Hospital and University College London , London, UK"],"affiliations":[{"raw_affiliation_string":"Cardiorespiratory Unit, Great Ormond Street Hospital and University College London , London, UK","institution_ids":["https://openalex.org/I2800129641","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051597447","display_name":"Yufeng Shen","orcid":"https://orcid.org/0000-0002-1299-5979"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Y Shen","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University , New York, NY, USA","Department of Systems Biology, Columbia University , New York, NY, USA"],"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University , New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"Department of Systems Biology, Columbia University , New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018722278","display_name":"Wendy K. Chung","orcid":"https://orcid.org/0000-0003-3438-5685"},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W K Chung","raw_affiliation_strings":["Department of Pediatrics and Medicine, Columbia University , New York, NY, USA"],"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Medicine, Columbia University , New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021544196","display_name":"Jonathan G. Seidman","orcid":"https://orcid.org/0000-0002-9082-3566"},"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":"J G Seidman","raw_affiliation_strings":["Department of Genetics, Harvard Medical School , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School , Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005091829","display_name":"Christine E. Seidman","orcid":"https://orcid.org/0000-0001-6380-1209"},"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":"C E Seidman","raw_affiliation_strings":["Department of Genetics, Harvard Medical School , Boston, MA, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School , Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071946434","display_name":"Eric E. Schadt","orcid":"https://orcid.org/0000-0002-7892-8808"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]},{"id":"https://openalex.org/I4210151791","display_name":"Genomics (United Kingdom)","ror":"https://ror.org/053a6xa29","country_code":"GB","type":"company","lineage":["https://openalex.org/I4210151791"]},{"id":"https://openalex.org/I4210110193","display_name":"Sema4 (United States)","ror":"https://ror.org/01nprxv78","country_code":"US","type":"company","lineage":["https://openalex.org/I4210110193"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"E E Schadt","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","Icahn Institute for Genomics and Multiscale Biology","Sema4, A Mount Sinai Venture , Stamford, CT, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Icahn Institute for Genomics and Multiscale Biology","institution_ids":["https://openalex.org/I4210151791"]},{"raw_affiliation_string":"Sema4, A Mount Sinai Venture , Stamford, CT, USA","institution_ids":["https://openalex.org/I4210110193"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086328119","display_name":"Bruce D. Gelb","orcid":"https://orcid.org/0000-0001-8527-5027"},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]},{"id":"https://openalex.org/I4210111958","display_name":"Child Health and Development Institute","ror":"https://ror.org/02bns0488","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210111958"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"B D Gelb","raw_affiliation_strings":["Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","Department of Pediatrics, Icahn School of Medicine at Mount Sinai , New York, NY, USA","Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Department of Pediatrics, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai , New York, NY, USA","institution_ids":["https://openalex.org/I4210111958","https://openalex.org/I98704320"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":18,"corresponding_author_ids":["https://openalex.org/A5086328119"],"corresponding_institution_ids":["https://openalex.org/I4210111958","https://openalex.org/I98704320"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.0716,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.79431013,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"35","issue":"20","first_page":"3906","last_page":"3912"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9991000294685364,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9991000294685364,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9879000186920166,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9878000020980835,"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/outlier","display_name":"Outlier","score":0.7100847959518433},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.6403725743293762},{"id":"https://openalex.org/keywords/python","display_name":"Python (programming language)","score":0.5367727279663086},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5361243486404419},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5346150994300842},{"id":"https://openalex.org/keywords/documentation","display_name":"Documentation","score":0.47060427069664},{"id":"https://openalex.org/keywords/coding","display_name":"Coding (social sciences)","score":0.46300697326660156},{"id":"https://openalex.org/keywords/open-source","display_name":"Open source","score":0.4295092821121216},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4257878065109253},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.4209740459918976},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.38611018657684326},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.3849588930606842},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3442668914794922},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.27910858392715454},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.27087730169296265},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.24370062351226807},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1994267702102661},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.1719495952129364},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.11633709073066711}],"concepts":[{"id":"https://openalex.org/C79337645","wikidata":"https://www.wikidata.org/wiki/Q779824","display_name":"Outlier","level":2,"score":0.7100847959518433},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.6403725743293762},{"id":"https://openalex.org/C519991488","wikidata":"https://www.wikidata.org/wiki/Q28865","display_name":"Python (programming language)","level":2,"score":0.5367727279663086},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5361243486404419},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5346150994300842},{"id":"https://openalex.org/C56666940","wikidata":"https://www.wikidata.org/wiki/Q788790","display_name":"Documentation","level":2,"score":0.47060427069664},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.46300697326660156},{"id":"https://openalex.org/C3018397939","wikidata":"https://www.wikidata.org/wiki/Q3644502","display_name":"Open source","level":3,"score":0.4295092821121216},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4257878065109253},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.4209740459918976},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.38611018657684326},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.3849588930606842},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3442668914794922},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.27910858392715454},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27087730169296265},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.24370062351226807},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1994267702102661},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.1719495952129364},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.11633709073066711},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0},{"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":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004282","descriptor_name":"Documentation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004282","descriptor_name":"Documentation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004282","descriptor_name":"Documentation","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":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035501","descriptor_name":"Uncertainty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035501","descriptor_name":"Uncertainty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035501","descriptor_name":"Uncertainty","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btz202","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz202","pdf_url":null,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:30903145","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30903145","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:pubmedcentral.nih.gov:6792115","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6792115","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":"pmh:oai:pubmedcentral.nih.gov:6792115","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6792115","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"},"sustainable_development_goals":[{"display_name":"Partnerships for the goals","score":0.4000000059604645,"id":"https://metadata.un.org/sdg/17"}],"awards":[{"id":"https://openalex.org/G2384309197","display_name":null,"funder_award_id":"UM1HL128711","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3237613517","display_name":null,"funder_award_id":"U24 HD090743-01","funder_id":"https://openalex.org/F4320314070","funder_display_name":"Broad Institute"},{"id":"https://openalex.org/G4006104920","display_name":null,"funder_award_id":"UM1HL128761","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4806302692","display_name":null,"funder_award_id":"UM1HL098123","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4973417965","display_name":null,"funder_award_id":"U01HL131003","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6826797694","display_name":null,"funder_award_id":"UM1HL098147","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8245321412","display_name":null,"funder_award_id":"UM1HL098162","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W1933039715","https://openalex.org/W1964963969","https://openalex.org/W1978150238","https://openalex.org/W1984068087","https://openalex.org/W1986911601","https://openalex.org/W2034901737","https://openalex.org/W2062350863","https://openalex.org/W2080327186","https://openalex.org/W2082518797","https://openalex.org/W2102619694","https://openalex.org/W2103441770","https://openalex.org/W2107018762","https://openalex.org/W2108234281","https://openalex.org/W2110905563","https://openalex.org/W2118308505","https://openalex.org/W2118608526","https://openalex.org/W2119180969","https://openalex.org/W2132241624","https://openalex.org/W2137526110","https://openalex.org/W2138207763","https://openalex.org/W2142386149","https://openalex.org/W2149992227","https://openalex.org/W2151318268","https://openalex.org/W2153735990","https://openalex.org/W2168133698","https://openalex.org/W2231968663","https://openalex.org/W2241686927","https://openalex.org/W2256016639","https://openalex.org/W2269787281","https://openalex.org/W2333286569","https://openalex.org/W2342127666","https://openalex.org/W2519703809","https://openalex.org/W2521004108","https://openalex.org/W2525479790","https://openalex.org/W2528624455","https://openalex.org/W2599110791","https://openalex.org/W2607005032","https://openalex.org/W2727796273","https://openalex.org/W2786174959","https://openalex.org/W2949444664","https://openalex.org/W2949884285","https://openalex.org/W2949982307","https://openalex.org/W2950545834"],"related_works":["https://openalex.org/W3080200277","https://openalex.org/W2557718140","https://openalex.org/W4399490472","https://openalex.org/W67092138","https://openalex.org/W2789551765","https://openalex.org/W2113128227","https://openalex.org/W632256878","https://openalex.org/W2491403535","https://openalex.org/W2479811461","https://openalex.org/W2104915799"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}