{"id":"https://openalex.org/W2148105023","doi":"https://doi.org/10.1093/bioinformatics/btv009","title":"An integrative approach to predicting the functional effects of non-coding and coding sequence variation","display_name":"An integrative approach to predicting the functional effects of non-coding and coding sequence variation","publication_year":2015,"publication_date":"2015-01-13","ids":{"openalex":"https://openalex.org/W2148105023","doi":"https://doi.org/10.1093/bioinformatics/btv009","mag":"2148105023","pmid":"https://pubmed.ncbi.nlm.nih.gov/25583119"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btv009","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv009","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":"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://doi.org/10.1093/bioinformatics/btv009","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034932095","display_name":"Hashem A. Shihab","orcid":null},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Hashem A. Shihab","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001892521","display_name":"Mark F. Rogers","orcid":"https://orcid.org/0000-0001-7886-0674"},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mark F. Rogers","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064008781","display_name":"Julian Gough","orcid":"https://orcid.org/0000-0002-1965-4982"},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julian Gough","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039958070","display_name":"Matthew Mort","orcid":"https://orcid.org/0000-0002-3986-0935"},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matthew Mort","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042443600","display_name":"D.N. Cooper","orcid":"https://orcid.org/0000-0002-8943-8484"},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David N. Cooper","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113733901","display_name":"Ian N.M. Day","orcid":null},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ian N. M. Day","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036589831","display_name":"Tom R. Gaunt","orcid":"https://orcid.org/0000-0003-0924-3247"},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Tom R. Gaunt","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111889809","display_name":"Colin Campbell","orcid":null},"institutions":[{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Colin Campbell","raw_affiliation_strings":["1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK"],"affiliations":[{"raw_affiliation_string":"1 MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, 2Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, 3Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, 4Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and 5Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK","institution_ids":["https://openalex.org/I36234482"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5034932095"],"corresponding_institution_ids":["https://openalex.org/I36234482"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":2695,"currency":"EUR","value_usd":2906},"fwci":23.3475,"has_fulltext":false,"cited_by_count":733,"citation_normalized_percentile":{"value":0.99719388,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"31","issue":"10","first_page":"1536","last_page":"1543"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9987000226974487,"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":0.9987000226974487,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9980999827384949,"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":0.9925000071525574,"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/coding","display_name":"Coding (social sciences)","score":0.699365496635437},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5668848752975464},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5435751080513},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.45305293798446655},{"id":"https://openalex.org/keywords/coding-region","display_name":"Coding region","score":0.43208467960357666},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.40015909075737},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.29617375135421753},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.25252658128738403},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.17410162091255188},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.13105708360671997},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.11918896436691284},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.09309101104736328}],"concepts":[{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.699365496635437},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5668848752975464},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5435751080513},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.45305293798446655},{"id":"https://openalex.org/C91779695","wikidata":"https://www.wikidata.org/wiki/Q3780824","display_name":"Coding region","level":3,"score":0.43208467960357666},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.40015909075737},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.29617375135421753},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25252658128738403},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.17410162091255188},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13105708360671997},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.11918896436691284},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.09309101104736328},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","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":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020506","descriptor_name":"Untranslated Regions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020506","descriptor_name":"Untranslated Regions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020506","descriptor_name":"Untranslated Regions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020506","descriptor_name":"Untranslated Regions","qualifier_ui":"Q000235","qualifier_name":"genetics","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},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1093/bioinformatics/btv009","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv009","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":"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:25583119","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25583119","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:research-information.bris.ac.uk:openaire_cris_publications/33786aa6-f449-4d2d-9bc5-6be41af43680","is_oa":false,"landing_page_url":"https://research-information.bris.ac.uk/en/publications/33786aa6-f449-4d2d-9bc5-6be41af43680","pdf_url":null,"source":{"id":"https://openalex.org/S4306400895","display_name":"Bristol Research (University of Bristol)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I36234482","host_organization_name":"University of Bristol","host_organization_lineage":["https://openalex.org/I36234482"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Shihab, H A, Rogers, M F, Gough, J J T, Mort, M, Cooper, D N, Day, I N M, Gaunt, T R & Campbell, I C G 2015, 'An Integrative Approach to Predicting the Functional Effects of Non-Coding and Coding Sequence Variation', Bioinformatics, vol. 31, no. 10, pp. 1536\u20131543. https://doi.org/10.1093/bioinformatics/btv009","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:https://orca.cardiff.ac.uk:84066","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306401195","display_name":"ORCA Online Research @Cardiff (Cardiff University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I79510175","host_organization_name":"Cardiff University","host_organization_lineage":["https://openalex.org/I79510175"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},{"id":"pmh:oai:europepmc.org:3417962","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4426838","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:open-archive.highwire.org:bioinfo:31/10/1536","is_oa":false,"landing_page_url":"http://bioinformatics.oxfordjournals.org/cgi/content/short/31/10/1536","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"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btv009","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv009","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":"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":[{"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals","score":0.47999998927116394}],"awards":[{"id":"https://openalex.org/G1805818001","display_name":null,"funder_award_id":"BB/G022771/1","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G1934935867","display_name":null,"funder_award_id":"Engineering and Physical Sciences R","funder_id":"https://openalex.org/F4320334627","funder_display_name":"Engineering and Physical Sciences Research Council"},{"id":"https://openalex.org/G1990576317","display_name":null,"funder_award_id":"BBSRC","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G2008797221","display_name":null,"funder_award_id":"BB/L018543/1","funder_id":"https://openalex.org/F4320334629","funder_display_name":"Biotechnology and Biological Sciences Research Council"},{"id":"https://openalex.org/G2046766031","display_name":"A systems approach to the classification of genes impacting the cardiovascular phenome","funder_award_id":"G1000427/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G235045266","display_name":null,"funder_award_id":"MC_UU_12013","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G3573210925","display_name":null,"funder_award_id":"G1000427","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G5471577864","display_name":null,"funder_award_id":"EP/K008250/1","funder_id":"https://openalex.org/F4320334627","funder_display_name":"Engineering and Physical Sciences Research Council"},{"id":"https://openalex.org/G5566807808","display_name":null,"funder_award_id":"MC_UU_","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6641951221","display_name":"An Active Learning Approach to Network Inference","funder_award_id":"EP/K008250/1","funder_id":"https://openalex.org/F4320334627","funder_display_name":"Engineering and Physical Sciences Research Council"},{"id":"https://openalex.org/G8987808804","display_name":null,"funder_award_id":"EP/M01715X/1","funder_id":"https://openalex.org/F4320334627","funder_display_name":"Engineering and Physical Sciences Research Council"}],"funders":[{"id":"https://openalex.org/F4320332167","display_name":"Directorate for Biological Sciences","ror":"https://ror.org/001xhss06"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334627","display_name":"Engineering and Physical Sciences Research Council","ror":"https://ror.org/0439y7842"},{"id":"https://openalex.org/F4320334629","display_name":"Biotechnology and Biological Sciences Research Council","ror":"https://ror.org/00cwqg982"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1510073064","https://openalex.org/W1549656520","https://openalex.org/W1618905105","https://openalex.org/W1966558370","https://openalex.org/W2018189081","https://openalex.org/W2045791858","https://openalex.org/W2048896634","https://openalex.org/W2063714349","https://openalex.org/W2092685308","https://openalex.org/W2096791516","https://openalex.org/W2109743529","https://openalex.org/W2114029728","https://openalex.org/W2117446594","https://openalex.org/W2141014201","https://openalex.org/W2142386149","https://openalex.org/W2154866190","https://openalex.org/W2160995259","https://openalex.org/W2168533552","https://openalex.org/W2171777347","https://openalex.org/W2259938310","https://openalex.org/W2885727518","https://openalex.org/W4300619116","https://openalex.org/W6636501900","https://openalex.org/W6682814448"],"related_works":["https://openalex.org/W2361861616","https://openalex.org/W2263699433","https://openalex.org/W2377979023","https://openalex.org/W2218034408","https://openalex.org/W2392921965","https://openalex.org/W2358755282","https://openalex.org/W2625833328","https://openalex.org/W1533177136","https://openalex.org/W4380994516","https://openalex.org/W2556260348"],"abstract_inverted_index":{"We":[0],"show":[1],"that":[2],"our":[3],"method":[4,39],"outperforms":[5],"current":[6],"state-of-the-art":[7],"algorithms,":[8],"CADD":[9],"and":[10],"GWAVA,":[11],"when":[12,31],"predicting":[13,32],"the":[14,26,33],"functional":[15],"consequences":[16],"of":[17,28,35],"non-coding":[18],"variants.":[19,37],"In":[20],"addition,":[21],"FATHMM-MKL":[22],"is":[23],"comparable":[24],"to":[25,44],"best":[27],"these":[29],"algorithms":[30],"impact":[34],"coding":[36],"The":[38],"includes":[40],"a":[41],"confidence":[42],"measure":[43],"rank":[45],"order":[46],"predictions.":[47]},"counts_by_year":[{"year":2026,"cited_by_count":13},{"year":2025,"cited_by_count":73},{"year":2024,"cited_by_count":87},{"year":2023,"cited_by_count":83},{"year":2022,"cited_by_count":93},{"year":2021,"cited_by_count":78},{"year":2020,"cited_by_count":72},{"year":2019,"cited_by_count":80},{"year":2018,"cited_by_count":63},{"year":2017,"cited_by_count":45},{"year":2016,"cited_by_count":26},{"year":2015,"cited_by_count":18},{"year":2014,"cited_by_count":2}],"updated_date":"2026-03-27T14:29:43.386196","created_date":"2025-10-10T00:00:00"}
