{"id":"https://openalex.org/W7168079809","doi":"https://doi.org/10.5281/zenodo.21326732","title":"Temporal Analysis of Clinical Variant Reclassification (2012-2025): analysis pipeline, processed data, and interactive companion","display_name":"Temporal Analysis of Clinical Variant Reclassification (2012-2025): analysis pipeline, processed data, and interactive companion","publication_year":2026,"publication_date":"2026-07-12","ids":{"openalex":"https://openalex.org/W7168079809","doi":"https://doi.org/10.5281/zenodo.21326732"},"language":"en","primary_location":{"id":"doi:10.5281/zenodo.21326732","doi":"https://doi.org/10.5281/zenodo.21326732","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.21326732","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Software"},"volume":null,"type":"software","is_traditional":false,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.5281/zenodo.21326732","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5132721230","display_name":"Y N Liang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Liang, Yilun","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057605930","display_name":"G N Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhang, Gongbo","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133921535","display_name":"Larry Babb","orcid":null,"observed_orcids":[]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Babb, Larry","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Boston, MA, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014144046","display_name":"Heidi L. Rehm","orcid":"https://orcid.org/0000-0002-6025-0015","observed_orcids":["https://orcid.org/0000-0002-6025-0015"]},"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/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I63966007","display_name":"Massachusetts Institute of Technology","ror":"https://ror.org/042nb2s44","country_code":"US","type":"education","lineage":["https://openalex.org/I63966007"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rehm, Heidi L.","raw_affiliation_strings":["Broad Institute of MIT and Harvard; Massachusetts General Hospital; Harvard Medical School, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard; Massachusetts General Hospital; Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I107606265","https://openalex.org/I136199984","https://openalex.org/I4210087915","https://openalex.org/I63966007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076330165","display_name":"Jordan Gabriela Nestor","orcid":"https://orcid.org/0000-0003-1418-3103","observed_orcids":["https://orcid.org/0000-0003-1418-3103"]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nestor, Jordan G.","raw_affiliation_strings":["Department of Medicine, Division of Nephrology, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Nephrology, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084797442","display_name":"Jerard Z Kneifati-Hayek","orcid":"https://orcid.org/0000-0002-8740-8409","observed_orcids":["https://orcid.org/0000-0002-8740-8409"]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kneifati-Hayek, Jerard Z.","raw_affiliation_strings":["Department of Medicine, Division of General Medicine, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of General Medicine, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014753877","display_name":"Yiming Luo","orcid":"https://orcid.org/0000-0001-7710-2425","observed_orcids":["https://orcid.org/0000-0001-7710-2425"]},"institutions":[{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Luo, Yiming","raw_affiliation_strings":["Department of Medicine, Division of Rheumatology and Clinical Immunology, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Division of Rheumatology and Clinical Immunology, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I2799503643","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062348385","display_name":"Sarath Babu Krishna Murthy","orcid":"https://orcid.org/0000-0001-7443-3034","observed_orcids":["https://orcid.org/0000-0001-7443-3034"]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Krishna Murthy, Sarath B.","raw_affiliation_strings":["Department of Medicine, Center for Precision Medicine and Genomics, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Center for Precision Medicine and Genomics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5140514265","display_name":"Yufeng Shen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shen, Yufeng","raw_affiliation_strings":["Department of Systems Biology, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Systems Biology, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082525282","display_name":"K Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wang, Kai","raw_affiliation_strings":["University of Pennsylvania; Children's Hospital of Philadelphia, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Pennsylvania; Children's Hospital of Philadelphia, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5140510504","display_name":"Wendy K. Chung","orcid":"https://orcid.org/0000-0003-3438-5685","observed_orcids":["https://orcid.org/0000-0003-3438-5685"]},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chung, Wendy K.","raw_affiliation_strings":["Harvard Medical School; Boston Children's Hospital, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harvard Medical School; Boston Children's Hospital, Boston, MA, USA","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009604048","display_name":"Chunhua Weng","orcid":"https://orcid.org/0000-0002-9624-0214","observed_orcids":["https://orcid.org/0000-0002-9624-0214","https://orcid.org/0000-0002-7530-9497"]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Weng, Chunhua","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York, NY, USA","institution_ids":["https://openalex.org/I78577930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9990000128746033,"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":0.9990000128746033,"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":9.999999747378752e-05,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":9.999999747378752e-05,"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/clinvar","display_name":"ClinVar","score":0.9399999976158142},{"id":"https://openalex.org/keywords/variant-reclassification","display_name":"variant reclassification","score":0.847000002861023},{"id":"https://openalex.org/keywords/clinical-variant-interpretation","display_name":"clinical variant interpretation","score":0.6769999861717224},{"id":"https://openalex.org/keywords/database-schema-evolution","display_name":"database schema evolution","score":0.609000027179718},{"id":"https://openalex.org/keywords/temporal-analysis","display_name":"temporal analysis","score":0.40799999237060547}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6520000100135803},{"id":"https://openalex.org/C8797682","wikidata":"https://www.wikidata.org/wiki/Q2115","display_name":"XML","level":2,"score":0.5612000226974487},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.5192999839782715},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.48980000615119934},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3774999976158142},{"id":"https://openalex.org/C2778734905","wikidata":"https://www.wikidata.org/wiki/Q15130689","display_name":"Reinterpretation","level":2,"score":0.3732999861240387},{"id":"https://openalex.org/C2983685735","wikidata":"https://www.wikidata.org/wiki/Q5227355","display_name":"Data source","level":2,"score":0.2937999963760376},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.28929999470710754},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.26489999890327454},{"id":"https://openalex.org/C148483581","wikidata":"https://www.wikidata.org/wiki/Q446488","display_name":"Feature selection","level":2,"score":0.2574999928474426},{"id":"https://openalex.org/C81917197","wikidata":"https://www.wikidata.org/wiki/Q628760","display_name":"Selection (genetic algorithm)","level":2,"score":0.25600001215934753},{"id":"https://openalex.org/C204321447","wikidata":"https://www.wikidata.org/wiki/Q30642","display_name":"Natural language processing","level":1,"score":0.25440001487731934}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.5281/zenodo.21326732","doi":"https://doi.org/10.5281/zenodo.21326732","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.21326732","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Software"},{"id":"doi:10.5281/zenodo.21326733","doi":"https://doi.org/10.5281/zenodo.21326733","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.21326733","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Software"},{"id":"doi:10.5281/zenodo.23246576","doi":"https://doi.org/10.5281/zenodo.23246576","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.23246576","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Software"},{"id":"doi:10.5281/zenodo.23248420","doi":"https://doi.org/10.5281/zenodo.23248420","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.23248420","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Software"}],"best_oa_location":{"id":"doi:10.5281/zenodo.21326732","doi":"https://doi.org/10.5281/zenodo.21326732","is_oa":true,"landing_page_url":"https://doi.org/10.5281/zenodo.21326732","pdf_url":null,"source":{"id":"https://openalex.org/S4306400562","display_name":"Zenodo (CERN European Organization for Nuclear Research)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I67311998","host_organization_name":"European Organization for Nuclear Research","host_organization_lineage":["https://openalex.org/I67311998"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Software"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7223346097","https://openalex.org/W4318040222","https://openalex.org/W7172333730","https://openalex.org/W7204600722","https://openalex.org/W4220655345","https://openalex.org/W4392967444","https://openalex.org/W4295309041","https://openalex.org/W7083305992","https://openalex.org/W2796505330","https://openalex.org/W2154866190"],"abstract_inverted_index":{"Open-source":[0],"analysis":[1],"pipeline,":[2],"processed":[3],"result":[4],"data,":[5],"publication":[6],"figures,":[7],"and":[8],"an":[9],"interactive":[10],"web":[11],"companion":[12],"for":[13],"the":[14,71,85,88,93],"study":[15],"Temporal":[16],"Analysis":[17],"of":[18,30,50],"Clinical":[19],"Variant":[20],"Reclassification":[21],"(2012-2025)":[22],"(submitted":[23],"to":[24,58],"Genome":[25],"Medicine).":[26],"A":[27],"longitudinal":[28],"reprocessing":[29],"3,678,303":[31],"ClinVar":[32,53,96],"variants":[33],"across":[34],"148":[35],"monthly":[36,97],"XML":[37,98],"snapshots":[38],"(November":[39],"2012":[40],"-":[41],"July":[42],"2025),":[43],"distinguishing":[44],"genuine":[45],"clinical":[46],"reinterpretation":[47],"from":[48,87],"artifacts":[49],"database/schema":[51],"evolution.":[52],"submitter":[54],"identities":[55],"are":[56,77,82],"anonymized":[57],"coded":[59],"labels":[60],"(Laboratory":[61],"A,":[62],"B,":[63],"C,":[64],"...)":[65],"by":[66,84],"submission":[67],"rank,":[68],"consistent":[69],"with":[70],"manuscript.":[72],"The":[73],"multi-GB":[74],"intermediate":[75],"tables":[76],"not":[78],"redistributed":[79],"here;":[80],"they":[81],"regenerated":[83],"pipeline":[86],"source":[89],"data.":[90],"Source":[91],"data:":[92],"public-domain":[94],"NCBI":[95],"releases":[99],"(https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/).":[100]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2026-07-13T00:00:00"}