{"id":"https://openalex.org/W4413040116","doi":"https://doi.org/10.3233/shti250811","title":"A Pilot Meta-Research on Evolving Evidence Behind Genetic Variant (Re)Classification","display_name":"A Pilot Meta-Research on Evolving Evidence Behind Genetic Variant (Re)Classification","publication_year":2025,"publication_date":"2025-08-07","ids":{"openalex":"https://openalex.org/W4413040116","doi":"https://doi.org/10.3233/shti250811","pmid":"https://pubmed.ncbi.nlm.nih.gov/40297433","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12036420"},"language":"en","primary_location":{"id":"doi:10.3233/shti250811","doi":"https://doi.org/10.3233/shti250811","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250811","pdf_url":null,"source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4413040111","display_name":"MEDINFO 2025 \u2014 Healthcare Smart \u00d7 Medicine Deep"},"type":"book-chapter","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.3233/shti250811","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070013250","display_name":"Haotian Ma","orcid":"https://orcid.org/0000-0002-9020-7915","observed_orcids":["https://orcid.org/0000-0002-9020-7915"]},"institutions":[{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Haotian Ma","raw_affiliation_strings":["Weill Cornell Medicine, New York, NY, US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weill Cornell Medicine, New York, NY, US","institution_ids":["https://openalex.org/I4387153466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021399686","display_name":"Zihan Xu","orcid":"https://orcid.org/0000-0002-5632-0439","observed_orcids":["https://orcid.org/0000-0002-5632-0439"]},"institutions":[{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zihan Xu","raw_affiliation_strings":["Weill Cornell Medicine, New York, NY, US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Weill Cornell Medicine, New York, NY, US","institution_ids":["https://openalex.org/I4387153466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108783216","display_name":"Wendy Chung","orcid":null,"observed_orcids":[]},"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":"Wendy Chung","raw_affiliation_strings":["Boston Children's Hospital and Harvard Medical School, Boston, MA, US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Boston Children's Hospital and Harvard Medical School, Boston, MA, US","institution_ids":["https://openalex.org/I1288882113","https://openalex.org/I136199984"]}]},{"author_position":"middle","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":"Chunhua Weng","raw_affiliation_strings":["Columbia University, New York, NY, US"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Columbia University, New York, NY, US","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085113833","display_name":"Yifan Peng","orcid":"https://orcid.org/0000-0001-9309-8331","observed_orcids":["https://orcid.org/0000-0001-9309-8331"]},"institutions":[{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yifan Peng","raw_affiliation_strings":["Weill Cornell Medicine, New York, NY, US"],"raw_orcid":"https://orcid.org/0000-0001-9309-8331","affiliations":[{"raw_affiliation_string":"Weill Cornell Medicine, New York, NY, US","institution_ids":["https://openalex.org/I4387153466"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5070013250"],"corresponding_institution_ids":["https://openalex.org/I4387153466"],"apc_list":null,"apc_paid":null,"fwci":3.1516,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.83000512,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"329","issue":null,"first_page":"108","last_page":"112"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.7904999852180481,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.7904999852180481,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.19930000603199005,"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":0.0010000000474974513,"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/variant-reclassification","display_name":"variant reclassification","score":0.7820000052452087},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.9779999852180481},{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.996999979019165},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9990000128746033},{"id":"https://openalex.org/keywords/clinvar","display_name":"ClinVar","score":0.6320000290870667},{"id":"https://openalex.org/keywords/citation-analysis","display_name":"citation analysis","score":0.7459999918937683},{"id":"https://openalex.org/keywords/quality-of-evidence","display_name":"quality of evidence","score":0.6190000176429749},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"precision medicine","score":0.6710000038146973},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.7229999899864197},{"id":"https://openalex.org/keywords/diverse-populations","display_name":"diverse populations","score":0.527999997138977},{"id":"https://openalex.org/keywords/clinical-decision-making","display_name":"clinical decision-making","score":0.6359999775886536}],"concepts":[{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.43626129627227783},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4135361313819885},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3369603753089905},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.3323569595813751},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.3233/shti250811","doi":"https://doi.org/10.3233/shti250811","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250811","pdf_url":null,"source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},{"id":"doi:10.1101/2025.04.07.25325116","doi":"https://doi.org/10.1101/2025.04.07.25325116","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2025.04.07.25325116","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2025/04/09/2025.04.07.25325116.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmid:40297433","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40297433","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,"listed_in":[],"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":"medRxiv : the preprint server for health sciences","raw_type":"Journal Article"},{"id":"pmid:40775829","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40775829","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,"listed_in":[],"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":"Studies in health technology and informatics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12976955","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12976955/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12976955/pdf/nihms-2152715.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Stud Health Technol Inform","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:12036420","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12036420/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"medRxiv","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.3233/shti250811","doi":"https://doi.org/10.3233/shti250811","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250811","pdf_url":null,"source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.6240000128746033}],"study_designs":[],"awards":[{"id":"https://openalex.org/G7557771905","display_name":"RESCUE: Rare Disease Detection and Escalation Support via a Learning Health System","funder_award_id":"R01HG012655","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000857426","display_name":"Clinical and Translational Science Award","funder_award_id":"UL1TR001873","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000864350","display_name":"ClinEX - Clinical Evidence Extraction, Representation, and Appraisal","funder_award_id":"R01LM014344","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"},{"id":"https://openalex.org/G9000867119","display_name":"Clinical and Translational Science Center","funder_award_id":"UL1TR002384","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000916197","display_name":"Extraction and summarization of evidence-based medicine","funder_award_id":"R01LM014573","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4413040116.pdf","grobid_xml":"https://content.openalex.org/works/W4413040116.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W1482095547","https://openalex.org/W2084985708","https://openalex.org/W2100989310","https://openalex.org/W2609941636","https://openalex.org/W2770026599","https://openalex.org/W2804425727","https://openalex.org/W2894287803","https://openalex.org/W4311768807","https://openalex.org/W4379141613"],"related_works":["https://openalex.org/W7117846081","https://openalex.org/W7117623534","https://openalex.org/W4319986558","https://openalex.org/W4391381825","https://openalex.org/W2957964157","https://openalex.org/W7166447124","https://openalex.org/W2939460080","https://openalex.org/W4411401968","https://openalex.org/W4408501959","https://openalex.org/W4310082957"],"abstract_inverted_index":{"Variant":[0],"classification":[1,78],"and":[2,24,41,63,84,98,109],"reclassification":[3,108],"are":[4],"fundamental":[5],"to":[6,45,104],"advancing":[7],"precision":[8],"medicine.":[9],"This":[10,88],"study":[11,89],"focuses":[12],"on":[13],"the":[14,38,71,75,91],"reclassifications":[15,97],"of":[16,18,43,77,101],"variants":[17],"uncertain":[19],"significance":[20],"(VUS)":[21],"in":[22,70],"BRCA1":[23],"BRCA2":[25],"genes.":[26],"By":[27],"analyzing":[28],"162":[29],"unique":[30],"cited":[31,72],"publications":[32],"supporting":[33,96],"VUS":[34],"reclassifications,":[35,56],"we":[36,67],"examined":[37],"accuracy,":[39],"completeness,":[40],"currency":[42],"citations":[44,62],"these":[46],"publications.":[47],"Our":[48],"findings":[49],"reveal":[50],"missing":[51],"or":[52],"inadequate":[53],"evidence":[54,95],"for":[55,93],"as":[57,59],"well":[58],"temporally":[60],"misaligned":[61],"ClinVar":[64],"submissions.":[65],"Furthermore,":[66],"observed":[68],"patterns":[69],"studies,":[73],"including":[74],"use":[76],"recommendations,":[79],"genetic":[80],"mechanisms,":[81],"computational":[82],"tools,":[83],"diverse":[85,102],"population":[86],"studies.":[87],"underscores":[90],"need":[92],"stronger":[94],"greater":[99],"inclusion":[100],"populations":[103],"optimize":[105],"genomic":[106],"variant":[107],"clinical":[110],"decision-making.":[111]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2025-10-10T00:00:00"}
