{"id":"https://openalex.org/W4396982168","doi":"https://doi.org/10.1093/database/baae034","title":"CardioHotspots: a database of mutational hotspots for cardiac disorders","display_name":"CardioHotspots: a database of mutational hotspots for cardiac disorders","publication_year":2024,"publication_date":"2024-01-01","ids":{"openalex":"https://openalex.org/W4396982168","doi":"https://doi.org/10.1093/database/baae034","pmid":"https://pubmed.ncbi.nlm.nih.gov/38752292"},"language":"en","primary_location":{"id":"doi:10.1093/database/baae034","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baae034","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae034/57699526/baae034.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["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":"Database","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae034/57699526/baae034.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008989819","display_name":"Alberto Garc\u00eda S.","orcid":"https://orcid.org/0000-0001-5910-4363"},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Alberto Garc\u00eda S","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005360899","display_name":"Mireia Costa","orcid":"https://orcid.org/0000-0002-8614-0914"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mireia Costa","raw_affiliation_strings":["PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022,","PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022,","institution_ids":["https://openalex.org/I60053951"]},{"raw_affiliation_string":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022, Spain","institution_ids":["https://openalex.org/I60053951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5098670989","display_name":"Alba Garc\u00eda-Zarzoso","orcid":null},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alba Garc\u00eda-Zarzoso","raw_affiliation_strings":["PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022,","PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022,","institution_ids":["https://openalex.org/I60053951"]},{"raw_affiliation_string":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022, Spain","institution_ids":["https://openalex.org/I60053951"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028443098","display_name":"\u00d3scar Pastor","orcid":"https://orcid.org/0000-0002-1320-8471"},"institutions":[{"id":"https://openalex.org/I60053951","display_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","ror":"https://ror.org/01460j859","country_code":"ES","type":"education","lineage":["https://openalex.org/I60053951"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Oscar Pastor","raw_affiliation_strings":["PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022,","PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022, Spain"],"affiliations":[{"raw_affiliation_string":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022,","institution_ids":["https://openalex.org/I60053951"]},{"raw_affiliation_string":"PROS Research Center, VRAIN, Polytechnic University of Valencia , Camino de Vera S/N, Valencia 46022, Spain","institution_ids":["https://openalex.org/I60053951"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5008989819"],"corresponding_institution_ids":[],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.08665643,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2024","issue":null,"first_page":"0","last_page":"0"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9987999796867371,"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":0.9987999796867371,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9632999897003174,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9478999972343445,"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/database","display_name":"Database","score":0.5466296672821045},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.5348777770996094},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.37987813353538513},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.359627902507782},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.32472750544548035},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.3192063570022583},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.28619807958602905},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.18262231349945068},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.14847445487976074}],"concepts":[{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.5466296672821045},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.5348777770996094},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.37987813353538513},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.359627902507782},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32472750544548035},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3192063570022583},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.28619807958602905},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.18262231349945068},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14847445487976074}],"mesh":[{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006331","descriptor_name":"Heart Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/database/baae034","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baae034","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae034/57699526/baae034.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["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":"Database","raw_type":"journal-article"},{"id":"pmid:38752292","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38752292","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":"Database : the journal of biological databases and curation","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:11096770","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11096770","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Database (Oxford)","raw_type":"Text"},{"id":"pmh:oai:riunet.upv.es:10251/211803","is_oa":true,"landing_page_url":"http://hdl.handle.net/10251/211803","pdf_url":null,"source":{"id":"https://openalex.org/S4306400639","display_name":"RiuNet (Universitat Polit\u00e8cnica de Val\u00e8ncia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I60053951","host_organization_name":"Universitat Polit\u00e8cnica de Val\u00e8ncia","host_organization_lineage":["https://openalex.org/I60053951"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":{"id":"doi:10.1093/database/baae034","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baae034","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae034/57699526/baae034.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["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":"Database","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.7099999785423279,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"awards":[{"id":"https://openalex.org/G3085534075","display_name":null,"funder_award_id":"PDC2021-121243-I00,MICIN/AEI/10.13039/501 10001103 PID2021-123824OB-I00","funder_id":"https://openalex.org/F4320335598","funder_display_name":"Agencia Estatal de Investigaci\u00f3n"},{"id":"https://openalex.org/G692644455","display_name":null,"funder_award_id":"ACIF/2021/117 CIPROM/2021/023","funder_id":"https://openalex.org/F4320321864","funder_display_name":"Generalitat Valenciana"}],"funders":[{"id":"https://openalex.org/F4320321864","display_name":"Generalitat Valenciana","ror":"https://ror.org/0097mvx21"},{"id":"https://openalex.org/F4320335598","display_name":"Agencia Estatal de Investigaci\u00f3n","ror":null}],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4396982168.pdf"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W2021074129","https://openalex.org/W2051978340","https://openalex.org/W2173732482","https://openalex.org/W2253928581","https://openalex.org/W2756203218","https://openalex.org/W2770026599","https://openalex.org/W2773354488","https://openalex.org/W2802873999","https://openalex.org/W2947459838","https://openalex.org/W2975979350","https://openalex.org/W2986620768","https://openalex.org/W3001934706","https://openalex.org/W3038317577","https://openalex.org/W3103040926","https://openalex.org/W3106811464","https://openalex.org/W3212791962","https://openalex.org/W3217808602","https://openalex.org/W4206446428","https://openalex.org/W4211223349","https://openalex.org/W4220821700","https://openalex.org/W4224037213","https://openalex.org/W4282918066","https://openalex.org/W4309506674","https://openalex.org/W6796383512","https://openalex.org/W6804898853","https://openalex.org/W6810311434","https://openalex.org/W6892478469"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2082860237","https://openalex.org/W2119695867","https://openalex.org/W2130076355","https://openalex.org/W1990804418","https://openalex.org/W1993764875","https://openalex.org/W2046158694","https://openalex.org/W2788277189","https://openalex.org/W2013243191","https://openalex.org/W2053972265"],"abstract_inverted_index":{"Mutational":[0],"hotspots":[1,44,54,90,110],"are":[2,45],"DNA":[3],"regions":[4],"with":[5,112],"an":[6],"abnormally":[7],"high":[8],"frequency":[9],"of":[10,74,87,101],"genetic":[11],"variants.":[12],"Identifying":[13],"whether":[14],"a":[15,20,64,84,120],"variant":[16],"is":[17,23,55,67,95,116],"located":[18],"in":[19,30,60],"mutational":[21,43,53],"hotspot":[22],"critical":[24,56],"for":[25,57,69,91],"determining":[26],"the":[27,48,70,96],"variant's":[28],"role":[29],"disorder":[31,59],"predisposition,":[32],"development,":[33],"and":[34,105],"treatment":[35],"response.":[36],"Despite":[37],"their":[38],"significance,":[39],"current":[40],"databases":[41],"on":[42],"limited":[46],"to":[47],"oncology":[49],"domain.":[50],"However,":[51],"identifying":[52],"any":[58],"which":[61],"genetics":[62],"plays":[63],"role.":[65],"This":[66,94],"true":[68],"world's":[71],"leading":[72],"cause":[73],"death:":[75],"cardiac":[76,92,113],"disorders.":[77,114],"In":[78],"this":[79],"work,":[80],"we":[81,99],"present":[82],"CardioHotspots,":[83],"literature-based":[85],"database":[86,98],"manually":[88],"curated":[89],"diseases.":[93],"only":[97],"know":[100],"that":[102],"provides":[103],"high-quality":[104],"easily":[106],"accessible":[107,118],"information":[108],"about":[109],"associated":[111],"CardioHotspots":[115],"publicly":[117],"via":[119],"web-based":[121],"platform":[122],"(https://genomics-hub.pros.dsic.upv.es:3099/).":[123],"Database":[124],"URL:":[125],"https://genomics-hub.pros.dsic.upv.es:3099/.":[126]},"counts_by_year":[],"updated_date":"2026-03-14T08:43:22.919905","created_date":"2025-10-10T00:00:00"}
