{"doi":"10.1038/jid.2014.491","title":"Updated Field Synopsis and Systematic Meta-Analyses of Genetic Association Studies in Cutaneous Melanoma: The MelGene Database","abstract":"We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P<5 × 10(-8)) with CM risk, with certain variants possibly functioning as proxies of already tagged genes. Four other loci (MITF, CCND1, MX2, and PLA2G6) were also significantly associated with 5 × 10(-8)<P<1 × 10(-3). In supplementary meta-analyses derived from genome-wide association studies, one additional locus located 11 kb upstream of ARNT (chromosome 1q21) showed genome-wide statistical significance with CM. Our approach serves as a useful model in analyzing and integrating the reported germline alterations involved in CM.","journal":"Journal of Investigative Dermatology","year":2015,"id":7796,"datarank":1.231620756242666,"base_score":3.6109179126442243,"endowment":3.6109179126442243,"self_citation_contribution":0.5416376868966337,"citation_network_contribution":0.6899830693460323,"self_endowment_contribution":0.5416376868966337,"citer_contribution":0.6899830693460323,"corpus_percentile":60.29292107404394,"corpus_rank":489,"citation_count":36,"citer_count":25,"citers_with_citation_signal":23,"citers_with_endowment":23,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.9336,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2015-04-01","fair_score":52.9167,"fair_percentile":78.6,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":18034,"name":"Irene Stefanaki","orcid":"0000-0002-2964-370X","position":1,"is_corresponding":false},{"id":7730,"name":"Christina M. 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Stratigos","orcid":null,"position":11,"is_corresponding":false},{"id":18033,"name":"Katerina Kypreou","orcid":null,"position":12,"is_corresponding":false},{"id":148,"name":"John P. A. Ioannidis","orcid":"0000-0003-3118-6859","position":13,"is_corresponding":false},{"id":70576,"name":"Alexander Stratigos","orcid":"0000-0002-6088-5694","position":15,"is_corresponding":false},{"id":70571,"name":"Kyriaki Antonopoulou","orcid":"0000-0002-9212-737X","position":0,"is_corresponding":true}],"reference_count":37,"raw_metadata":null,"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":100.0,"fair_a":70.0,"fair_i":0.0,"fair_r":41.6667,"fair_zscore":-1.8659,"fair_rationale":{"fair_score":52.92,"has_llm":false,"dimensions":{"F":{"name":"Findable","score":100.0,"criteria":[{"key":"f_has_doi","label":"Has a persistent DOI","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"DOI present","rationale":null},{"key":"f_repository_presence","label":"Indexed in repositories / literature DBs","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"datacite=0, pmcid=False, pmid=True","rationale":null},{"key":"f_persistent_ids","label":"Resolvable scholarly identifiers (OpenAlex)","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"OpenAlex id present","rationale":null}]},"A":{"name":"Accessible","score":70.0,"criteria":[{"key":"a_open_access","label":"Open Access / files deposited","kind":"deterministic","weight":1.5,"fraction":0.5,"signal":"files/OA location present but not flagged OA","rationale":null},{"key":"a_retrievable","label":"Free full text retrievable","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"7 OA location(s)","rationale":null}]},"I":{"name":"Interoperable","score":0.0,"criteria":[{"key":"i_linked_data","label":"Linked datasets / DataCite relations","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"linked_datasets=0, datacite=0","rationale":null},{"key":"i_standard_ids","label":"References data via standard accessions","kind":"deterministic","weight":1.0,"fraction":0.0,"signal":"accessions=0, trials=0","rationale":null}]},"R":{"name":"Reusable","score":41.67,"criteria":[{"key":"r_license","label":"Clear, open reuse license","kind":"deterministic","weight":1.5,"fraction":0.5,"signal":"license present (http://www.elsevier.com/open-access/userlicense/1.0/)","rationale":null},{"key":"r_downloads","label":"Demonstrated reuse (downloads)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"downloads=0","rationale":null},{"key":"r_version","label":"Versioned / maintained","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no version chain","rationale":null},{"key":"r_dataset","label":"Classified as a data resource","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"is_dataset","rationale":null}]}},"suggestions":["Link the underlying datasets via DOIs / DataCite relations.","Reference data using standard accessions (e.g. GEO, PDB, ClinicalTrials.gov).","Maintain explicit versioning for the dataset.","Make the paper/data Open Access or deposit the files in an open repository.","Attach a clear, open reuse license (e.g. CC-BY or CC0)."],"model":null,"agent_version":"fair_agent_v2","fulltext_source":"abstract_only"},"fair_model":null,"fair_agent_version":"fair_agent_v2","fair_fulltext_source":"abstract_only","fair_has_llm":false,"fair_computed_at":"2026-06-22T14:14:14.820310Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}