{"id":"https://openalex.org/W2945096435","doi":"https://doi.org/10.1093/nar/gkz411","title":"Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database","display_name":"Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database","publication_year":2019,"publication_date":"2019-05-20","ids":{"openalex":"https://openalex.org/W2945096435","doi":"https://doi.org/10.1093/nar/gkz411","mag":"2945096435","pmid":"https://pubmed.ncbi.nlm.nih.gov/31114901"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkz411","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkz411","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/nar/gkz411","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089854537","display_name":"Eduardo P\u00e9rez\u2010Palma","orcid":"https://orcid.org/0000-0003-0546-5141"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Eduardo P\u00e9rez-Palma","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007206766","display_name":"Marie Gramm","orcid":"https://orcid.org/0000-0002-4217-5277"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Marie Gramm","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078248666","display_name":"Peter N\u00fcrnberg","orcid":"https://orcid.org/0000-0002-7228-428X"},"institutions":[{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter N\u00fcrnberg","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany","institution_ids":["https://openalex.org/I180923762"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057437092","display_name":"Patrick May","orcid":"https://orcid.org/0000-0001-8698-3770"},"institutions":[{"id":"https://openalex.org/I186903577","display_name":"University of Luxembourg","ror":"https://ror.org/036x5ad56","country_code":"LU","type":"education","lineage":["https://openalex.org/I186903577"]}],"countries":["LU"],"is_corresponding":false,"raw_author_name":"Patrick May","raw_affiliation_strings":["Luxembourg Centre for Systems Biomedicine, University Luxembourg, L-4362\u00a0Esch-sur-Alzette, Luxembourg"],"affiliations":[{"raw_affiliation_string":"Luxembourg Centre for Systems Biomedicine, University Luxembourg, L-4362\u00a0Esch-sur-Alzette, Luxembourg","institution_ids":["https://openalex.org/I186903577"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010212767","display_name":"Dennis Lal","orcid":"https://orcid.org/0000-0002-5173-9636"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I180923762","display_name":"University of Cologne","ror":"https://ror.org/00rcxh774","country_code":"DE","type":"education","lineage":["https://openalex.org/I180923762"]},{"id":"https://openalex.org/I36373038","display_name":"Cleveland Clinic Lerner College of Medicine","ror":"https://ror.org/02x4b0932","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750","https://openalex.org/I36373038"]}],"countries":["DE","US"],"is_corresponding":true,"raw_author_name":"Dennis Lal","raw_affiliation_strings":["Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany","Epilepsy Center, Neurological Institute, Cleveland Clinic, 44195\u00a0Cleveland, OH,\u00a0USA","Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic,\u00a044195\u00a0Cleveland, OH, USA","Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA"],"affiliations":[{"raw_affiliation_string":"Cologne Center for Genomics, University of Cologne, 50939\u00a0Cologne, NRW, Germany","institution_ids":["https://openalex.org/I180923762"]},{"raw_affiliation_string":"Epilepsy Center, Neurological Institute, Cleveland Clinic, 44195\u00a0Cleveland, OH,\u00a0USA","institution_ids":["https://openalex.org/I1316902750"]},{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic,\u00a044195\u00a0Cleveland, OH, USA","institution_ids":["https://openalex.org/I36373038"]},{"raw_affiliation_string":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5010212767"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I1316902750","https://openalex.org/I180923762","https://openalex.org/I36373038"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":6.2766,"has_fulltext":false,"cited_by_count":76,"citation_normalized_percentile":{"value":0.96778067,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"47","issue":"W1","first_page":"W99","last_page":"W105"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9998000264167786,"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":0.9998000264167786,"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":0.9915000200271606,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9912999868392944,"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/web-server","display_name":"Web server","score":0.5991837382316589},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.5276913642883301},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5114809274673462},{"id":"https://openalex.org/keywords/web-application","display_name":"Web application","score":0.4738505184650421},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.46923619508743286},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4590083956718445},{"id":"https://openalex.org/keywords/interface","display_name":"Interface (matter)","score":0.4401320219039917},{"id":"https://openalex.org/keywords/resource","display_name":"Resource (disambiguation)","score":0.41762053966522217},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.351826548576355},{"id":"https://openalex.org/keywords/the-internet","display_name":"The Internet","score":0.2854538559913635}],"concepts":[{"id":"https://openalex.org/C11392498","wikidata":"https://www.wikidata.org/wiki/Q11288","display_name":"Web server","level":3,"score":0.5991837382316589},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.5276913642883301},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5114809274673462},{"id":"https://openalex.org/C118643609","wikidata":"https://www.wikidata.org/wiki/Q189210","display_name":"Web application","level":2,"score":0.4738505184650421},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.46923619508743286},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4590083956718445},{"id":"https://openalex.org/C113843644","wikidata":"https://www.wikidata.org/wiki/Q901882","display_name":"Interface (matter)","level":4,"score":0.4401320219039917},{"id":"https://openalex.org/C206345919","wikidata":"https://www.wikidata.org/wiki/Q20380951","display_name":"Resource (disambiguation)","level":2,"score":0.41762053966522217},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.351826548576355},{"id":"https://openalex.org/C110875604","wikidata":"https://www.wikidata.org/wiki/Q75","display_name":"The Internet","level":2,"score":0.2854538559913635},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C31258907","wikidata":"https://www.wikidata.org/wiki/Q1301371","display_name":"Computer network","level":1,"score":0.0},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.0},{"id":"https://openalex.org/C55352822","wikidata":"https://www.wikidata.org/wiki/Q5558978","display_name":"Gibbs isotherm","level":3,"score":0.0},{"id":"https://openalex.org/C58226133","wikidata":"https://www.wikidata.org/wiki/Q1324199","display_name":"Pulmonary surfactant","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000079803","descriptor_name":"Data Management","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000079803","descriptor_name":"Data Management","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000079803","descriptor_name":"Data Management","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"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":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":5,"locations":[{"id":"doi:10.1093/nar/gkz411","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkz411","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:31114901","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31114901","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":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:USBKOELN.ub.uni-koeln.de:13567","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306400371","display_name":"K\u00f6lner Universit\u00e4ts PublikationsServer (Universit\u00e4t zu K\u00f6ln)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210115942","host_organization_name":"Rhenish Institute for Environmental Research","host_organization_lineage":["https://openalex.org/I4210115942"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"doc-type:article"},{"id":"pmh:oai:europepmc.org:5577284","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6602488","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:orbilu.uni.lu:10993/39530","is_oa":false,"landing_page_url":"https://orbilu.uni.lu/handle/10993/39530","pdf_url":null,"source":{"id":"https://openalex.org/S4306401815","display_name":"Open Repository and Bibliography (University of Luxembourg)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I186903577","host_organization_name":"University of Luxembourg","host_organization_lineage":["https://openalex.org/I186903577"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research (2019-05-22)","raw_type":"peer reviewed"}],"best_oa_location":{"id":"doi:10.1093/nar/gkz411","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkz411","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W2010595044","https://openalex.org/W2051978340","https://openalex.org/W2059600528","https://openalex.org/W2096525273","https://openalex.org/W2122732537","https://openalex.org/W2154139219","https://openalex.org/W2173732482","https://openalex.org/W2174602966","https://openalex.org/W2256016639","https://openalex.org/W2309021002","https://openalex.org/W2320983896","https://openalex.org/W2323348465","https://openalex.org/W2417483443","https://openalex.org/W2619038304","https://openalex.org/W2770026599","https://openalex.org/W2796505330","https://openalex.org/W2804660356","https://openalex.org/W4210702584","https://openalex.org/W4247183452","https://openalex.org/W4251386234","https://openalex.org/W6700819146"],"related_works":["https://openalex.org/W2378005410","https://openalex.org/W2003932708","https://openalex.org/W2170435352","https://openalex.org/W2138102289","https://openalex.org/W1967424056","https://openalex.org/W868043274","https://openalex.org/W2513523087","https://openalex.org/W1187916458","https://openalex.org/W2373861055","https://openalex.org/W2320392270"],"abstract_inverted_index":{"Clinical":[0],"genetic":[1,130],"testing":[2],"has":[3],"exponentially":[4],"expanded":[5],"in":[6,20,35,112,149,173],"recent":[7],"years,":[8],"leading":[9],"to":[10,44,97,124,136,158,189,192],"an":[11],"overwhelming":[12],"amount":[13],"of":[14,28,70,143,161],"patient":[15,74],"variants":[16,75,162],"with":[17,62],"high":[18],"variability":[19],"pathogenicity":[21],"and":[22,49,79,101,115,132,153,171,185,198],"heterogeneous":[23],"phenotypes.":[24],"A":[25],"large":[26],"part":[27,69],"the":[29,42,71,108,145,151,174],"variant":[30],"level":[31,103],"data":[32],"is":[33,77,95,122],"aggregated":[34],"public":[36],"databases":[37],"such":[38,53],"as":[39,54],"ClinVar.":[40,159],"However,":[41],"ability":[43],"explore":[45],"this":[46],"rich":[47],"resource":[48],"answer":[50,126],"general":[51],"questions":[52,128],"'How":[55],"many":[56],"genes":[57,152],"inside":[58],"ClinVar":[59,88,110,182,190],"are":[60,73],"associated":[61],"a":[63,90,113,140,193],"specific":[64],"disease?":[65],"or":[66,169],"'In":[67],"which":[68],"protein":[72,176],"located?'":[76],"limited":[78],"requires":[80],"advanced":[81],"bioinformatics":[82],"processing.":[83],"Here,":[84],"we":[85],"present":[86],"Simple":[87],"(http://simple-clinvar.broadinstitute.org/)":[89],"web":[91,120],"server":[92],"application":[93,121],"that":[94],"able":[96,123],"provide":[98,186],"variant,":[99],"gene":[100],"disease":[102,141],"summary":[104],"statistics":[105],"based":[106],"on":[107],"entire":[109],"database":[111],"dynamic":[114],"user-friendly":[116],"web-interface.":[117],"Overall,":[118],"our":[119],"interactively":[125],"basic":[127,197],"regarding":[129],"variation":[131],"its":[133],"known":[134],"relationships":[135],"disease.":[137],"By":[138],"typing":[139],"term":[142],"interest,":[144],"user":[146],"can":[147,163],"identify":[148],"seconds":[150],"phenotypes":[154],"most":[155],"frequently":[156],"reported":[157],"Subsets":[160],"then":[164],"be":[165],"further":[166],"explored,":[167],"filtered":[168],"mapped":[170],"visualized":[172],"corresponding":[175],"sequences.":[177],"Our":[178],"website":[179],"will":[180],"follow":[181],"monthly":[183],"releases":[184],"easy":[187],"access":[188],"resources":[191],"broader":[194],"audience":[195],"including":[196],"clinical":[199],"scientists.":[200]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":19},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":12},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":1}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}