{"id":"https://openalex.org/W2762443459","doi":"https://doi.org/10.1186/s12859-017-1862-y","title":"An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome","display_name":"An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome","publication_year":2017,"publication_date":"2017-10-06","ids":{"openalex":"https://openalex.org/W2762443459","doi":"https://doi.org/10.1186/s12859-017-1862-y","mag":"2762443459","pmid":"https://pubmed.ncbi.nlm.nih.gov/28985712"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-017-1862-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-017-1862-y","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1862-y","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1862-y","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5091883054","display_name":"Michael Ferlaino","orcid":"https://orcid.org/0000-0003-1812-9286"},"institutions":[{"id":"https://openalex.org/I2802952180","display_name":"Open Data Institute","ror":"https://ror.org/02hr72y72","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I2802952180"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Ferlaino","raw_affiliation_strings":["Big Data Institute, University of Oxford, Oxford, OX3 7LF, UK. michael.ferlaino@bdi.ox.ac.uk","Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, OX3 9DU, UK. michael.ferlaino@bdi.ox.ac.uk","Big Data Institute, University of Oxford, Oxford, OX3 7LF, UK"],"raw_orcid":"https://orcid.org/0000-0003-1812-9286","affiliations":[{"raw_affiliation_string":"Big Data Institute, University of Oxford, Oxford, OX3 7LF, UK. michael.ferlaino@bdi.ox.ac.uk","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, OX3 9DU, UK. michael.ferlaino@bdi.ox.ac.uk","institution_ids":["https://openalex.org/I40120149"]},{"raw_affiliation_string":"Big Data Institute, University of Oxford, Oxford, OX3 7LF, UK","institution_ids":["https://openalex.org/I2802952180","https://openalex.org/I40120149"]}]},{"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":["Intelligent Systems Laboratory, University of Bristol, Bristol, BS8 1UB, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Intelligent Systems Laboratory, University of Bristol, Bristol, BS8 1UB, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"middle","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":false,"raw_author_name":"Hashem A. Shihab","raw_affiliation_strings":["MRC Integrative Epidemiology Unit, University of Bristol, Bristol, BS8 2BN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Integrative Epidemiology Unit, University of Bristol, Bristol, BS8 2BN, 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/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matthew Mort","raw_affiliation_strings":["Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"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/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David N. Cooper","raw_affiliation_strings":["Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Genetics, Cardiff University, Cardiff, CF14 4XN, UK","institution_ids":["https://openalex.org/I79510175"]}]},{"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":["MRC Integrative Epidemiology Unit, University of Bristol, Bristol, BS8 2BN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Integrative Epidemiology Unit, University of Bristol, Bristol, BS8 2BN, UK","institution_ids":["https://openalex.org/I36234482"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079342653","display_name":"Colin Campbell","orcid":"https://orcid.org/0000-0002-4775-9802"},"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":["Intelligent Systems Laboratory, University of Bristol, Bristol, BS8 1UB, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Intelligent Systems Laboratory, University of Bristol, Bristol, BS8 1UB, UK","institution_ids":["https://openalex.org/I36234482"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":3.4973,"has_fulltext":true,"cited_by_count":81,"citation_normalized_percentile":{"value":0.92679037,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"18","issue":"1","first_page":"442","last_page":"442"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9264000058174133,"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":0.9264000058174133,"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":0.023600000888109207,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.01360000018030405,"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/human-genome","display_name":"Human genome","score":0.7170801758766174},{"id":"https://openalex.org/keywords/indel","display_name":"Indel","score":0.6793303489685059},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.5985496044158936},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5829334855079651},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5688791871070862},{"id":"https://openalex.org/keywords/coding","display_name":"Coding (social sciences)","score":0.49383577704429626},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.42585238814353943},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.37403368949890137},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.34994006156921387},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.2876507639884949},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.114722341299057},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.09475594758987427},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.0910806655883789},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.0763462483882904}],"concepts":[{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.7170801758766174},{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.6793303489685059},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.5985496044158936},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5829334855079651},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5688791871070862},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.49383577704429626},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42585238814353943},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37403368949890137},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.34994006156921387},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2876507639884949},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.114722341299057},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.09475594758987427},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0910806655883789},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0763462483882904},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"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":"D012372","descriptor_name":"ROC Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012372","descriptor_name":"ROC Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012372","descriptor_name":"ROC Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012372","descriptor_name":"ROC Curve","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","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":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":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D021901","descriptor_name":"DNA, Intergenic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D021901","descriptor_name":"DNA, Intergenic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D021901","descriptor_name":"DNA, Intergenic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D021901","descriptor_name":"DNA, Intergenic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054643","descriptor_name":"INDEL Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1186/s12859-017-1862-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-017-1862-y","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1862-y","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:28985712","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28985712","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:https://orca.cardiff.ac.uk:105298","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:research-information.bris.ac.uk:publications/0b177085-9479-4fbd-aa16-4b75bd7f1b7b","is_oa":true,"landing_page_url":"https://hdl.handle.net/1983/0b177085-9479-4fbd-aa16-4b75bd7f1b7b","pdf_url":"https://research-information.bris.ac.uk/ws/files/139973522/Full_text_PDF_final_published_version_.pdf","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":""},{"id":"pmh:oai:research-information.bris.ac.uk:publications/0b177085-9479-4fbd-aa16-4b75bd7f1b7b","is_oa":true,"landing_page_url":"https://research-information.bris.ac.uk/en/publications/0b177085-9479-4fbd-aa16-4b75bd7f1b7b","pdf_url":"https://research-information.bris.ac.uk/files/139973522/Full_text_PDF_final_published_version_.pdf","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Ferlaino, M, Rogers, M F, Shihab, H A, Mort, M, Cooper, D N, Gaunt, T R & Campbell, C 2017, 'An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome', BMC Bioinformatics, vol. 18, no. 1, 442. https://doi.org/10.1186/s12859-017-1862-y","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:doaj.org/article:09335655529e4701b1d10904f632ee00","is_oa":true,"landing_page_url":"https://doaj.org/article/09335655529e4701b1d10904f632ee00","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","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":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 18, Iss 1, Pp 1-8 (2017)","raw_type":"article"},{"id":"pmh:oai:europepmc.org:4873310","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5955213","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"}],"best_oa_location":{"id":"doi:10.1186/s12859-017-1862-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-017-1862-y","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/s12859-017-1862-y","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2210785568","display_name":null,"funder_award_id":"MCUU12013/8","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G317400622","display_name":null,"funder_award_id":"MC UU 12013/8","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G3642720677","display_name":"Automated phenotyping to accurately infer functional variants in clinical genetics","funder_award_id":"MR/M01326X/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G5306625668","display_name":null,"funder_award_id":"MR/M01326X/1","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/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/F4320320350","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41"},{"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"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2762443459.pdf","grobid_xml":"https://content.openalex.org/works/W2762443459.grobid-xml"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W1510073064","https://openalex.org/W1549656520","https://openalex.org/W1865845132","https://openalex.org/W1900984040","https://openalex.org/W1998770186","https://openalex.org/W2001036195","https://openalex.org/W2011582941","https://openalex.org/W2018189081","https://openalex.org/W2070017388","https://openalex.org/W2070777085","https://openalex.org/W2088101922","https://openalex.org/W2092685308","https://openalex.org/W2096777589","https://openalex.org/W2097936772","https://openalex.org/W2104549677","https://openalex.org/W2109743529","https://openalex.org/W2114029728","https://openalex.org/W2139969213","https://openalex.org/W2145191876","https://openalex.org/W2146973661","https://openalex.org/W2148105023","https://openalex.org/W2154776925","https://openalex.org/W2154866190","https://openalex.org/W2157825442","https://openalex.org/W2159738351","https://openalex.org/W2160995259","https://openalex.org/W2167852161","https://openalex.org/W2259938310","https://openalex.org/W2548695521","https://openalex.org/W2571852295","https://openalex.org/W2604078450","https://openalex.org/W2605586296","https://openalex.org/W4300619116"],"related_works":["https://openalex.org/W4240983354","https://openalex.org/W2969666262","https://openalex.org/W2160515792","https://openalex.org/W2156272823","https://openalex.org/W1969895229","https://openalex.org/W1979741542","https://openalex.org/W2108497208","https://openalex.org/W4238032041","https://openalex.org/W2000974906","https://openalex.org/W1974120093"],"abstract_inverted_index":{"BACKGROUND:":[0],"Small":[1],"insertions":[2],"and":[3,105,137],"deletions":[4],"(indels)":[5],"have":[6],"a":[7,124],"significant":[8],"influence":[9],"in":[10,14,54,78,91,112],"human":[11,59,83],"disease":[12],"and,":[13],"terms":[15],"of":[16,32,52,57,76,81,108,117],"frequency,":[17],"they":[18],"are":[19,38],"second":[20],"only":[21],"to":[22,46,68,93],"single":[23],"nucleotide":[24],"variants":[25],"as":[26],"pathogenic":[27,50,73,115],"mutations.":[28],"As":[29],"the":[30,41,48,58,70,82,109,114,134,142],"majority":[31],"mutations":[33],"associated":[34],"with":[35],"complex":[36],"traits":[37],"located":[39],"outside":[40],"exome,":[42],"it":[43],"is":[44,121],"crucial":[45],"investigate":[47],"potential":[49],"impact":[51,116,136],"indels":[53,77,140],"non-coding":[55,79,118,144],"regions":[56,80],"genome.":[60,84,145],"RESULTS:":[61],"We":[62],"present":[63],"FATHMM-indel,":[64],"an":[65],"integrative":[66],"approach":[67],"predict":[69,133],"functional":[71,135],"effect,":[72],"or":[74],"neutral,":[75],"Our":[85],"method":[86],"exploits":[87],"various":[88],"genomic":[89],"annotations":[90],"addition":[92],"sequence":[94],"data.":[95],"When":[96],"validated":[97],"on":[98],"benchmark":[99],"data,":[100],"FATHMM-indel":[101,120,130],"significantly":[102],"outperforms":[103],"CADD":[104],"GAVIN,":[106],"state":[107],"art":[110],"models":[111],"assessing":[113],"variants.":[119],"available":[122],"via":[123],"web":[125],"server":[126],"at":[127],"indels.biocompute.org.uk.":[128],"CONCLUSIONS:":[129],"can":[131],"accurately":[132],"prioritise":[138],"small":[139],"throughout":[141],"whole":[143]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":28},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2025-10-10T00:00:00"}