{"doi":"10.1186/1479-7364-7-12","title":"Vive la différence: naming structural variants in the human reference genome","abstract":null,"journal":"Human Genomics","year":2013,"id":687262,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1795466,"name":"Mathew W Wright","orcid":null,"position":1,"is_corresponding":false},{"id":1795467,"name":"Kristian A Gray","orcid":null,"position":2,"is_corresponding":false},{"id":850488,"name":"Elspeth A Bruford","orcid":null,"position":3,"is_corresponding":false},{"id":1795465,"name":"Ruth L Seal","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Vive la différence: naming structural variants in the human reference genome","abstract":"The HUGO Gene Nomenclature Committee has approved gene symbols for the majority of protein-coding genes on the human reference genome. To adequately represent regions of complex structural variation, the Genome Reference Consortium now includes alternative representations of some of these regions as part of the reference genome. Here, we describe examples of how we name novel genes in these regions and how this nomenclature is displayed on our website, http://genenames.org.","is_dataset_classified":null,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"23634723","pmcid":"PMC3648363","openalex_id":"https://openalex.org/W2151043263","authors":[],"funders":[{"funder_name":"Wellcome Trust","grant_id":"099129/Z/12/Z","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"P41 HG003345","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"P41 HG03345","title":null},{"funder_name":"National Institutes of Health","grant_id":"5P41HG003345-07","title":"The Nomenclature of Human Genes"},{"funder_name":"Wellcome Trust","grant_id":"099129","title":"The Nomenclature of Human and Vertebrate Genes."}],"total_grants":5,"fwci":0.2753,"citation_percentile":0.60270769,"influential_citations":0,"citation_trend":[{"year":2014,"count":1},{"year":2015,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://humgenomics.biomedcentral.com/counter/pdf/10.1186/1479-7364-7-12","host_type":"journal"},{"url":"https://humgenomics.biomedcentral.com/counter/pdf/10.1186/1479-7364-7-12","host_type":"publisher"},{"url":"http://link.springer.com/content/pdf/10.1186/1479-7364-7-12.pdf","host_type":"publisher"},{"url":"http://link.springer.com/article/10.1186/1479-7364-7-12/fulltext.html","host_type":"publisher"},{"url":"https://doi.org/10.1186/1479-7364-7-12","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/23634723","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3648363","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC3648363","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC3648363?pdf=render","host_type":"Europe_PMC"},{"url":"https://humgenomics.biomedcentral.com/track/pdf/10.1186/1479-7364-7-12","host_type":""},{"url":"http://dx.doi.org/10.1186/1479-7364-7-12","host_type":""},{"url":"https://dx.doi.org/10.1186/1479-7364-7-12","host_type":""}],"fields_of_study":["RNA and protein synthesis mechanisms","Genomics and Phylogenetic Studies","RNA modifications and cancer","0301 basic medicine","0303 health sciences","03 medical and health sciences","Genome, Human","Haplotypes","Humans","Mutation","Reference Standards","Terminology as Topic"],"mesh_terms":["Haplotypes","Humans","Mutation","Terminology as Topic","Reference Standards","Genome, Human"],"keywords":["Gene nomenclature","Genome","Human genome","Nomenclature","Human genetics","Reference genome","Biology","Gene","Computational biology","Genetics","Taxonomy (biology)","Haplotypes","Genome, Human","Terminology as Topic","Mutation","Humans","Reference Standards","Letter to the Editor"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"gen"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-18T21:39:25.271941Z","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":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}