{"id":"https://openalex.org/W2155074506","doi":"https://doi.org/10.1186/1471-2105-12-s4-s5","title":"A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form","display_name":"A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form","publication_year":2011,"publication_date":"2011-07-05","ids":{"openalex":"https://openalex.org/W2155074506","doi":"https://doi.org/10.1186/1471-2105-12-s4-s5","mag":"2155074506","pmid":"https://pubmed.ncbi.nlm.nih.gov/21992071"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-12-s4-s5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-12-s4-s5","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-S4-S5","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-S4-S5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001355447","display_name":"Jeroen F. J. Laros","orcid":"https://orcid.org/0000-0002-8715-7371"},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jeroen FJ Laros","raw_affiliation_strings":["Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002933829","display_name":"Andr\u00e9 Blavier","orcid":"https://orcid.org/0000-0002-5161-1237"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andr\u00e9 Blavier","raw_affiliation_strings":["Interactive Biosoftware, Rouen, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Interactive Biosoftware, Rouen, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040120668","display_name":"Johan T. den Dunnen","orcid":"https://orcid.org/0000-0002-6304-1710"},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Johan T den Dunnen","raw_affiliation_strings":["Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5053681207","display_name":"Peter E.M. Taschner","orcid":"https://orcid.org/0000-0001-9621-465X"},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Peter EM Taschner","raw_affiliation_strings":["Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5053681207"],"corresponding_institution_ids":["https://openalex.org/I2800006345"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":1.1113,"has_fulltext":true,"cited_by_count":29,"citation_normalized_percentile":{"value":0.79643524,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"12","issue":"S4","first_page":"S5","last_page":"S5"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9557999968528748,"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":0.9557999968528748,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.0210999995470047,"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"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.014999999664723873,"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/gene-nomenclature","display_name":"Gene nomenclature","score":0.6776546239852905},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.63542240858078},{"id":"https://openalex.org/keywords/nomenclature","display_name":"Nomenclature","score":0.5661447644233704},{"id":"https://openalex.org/keywords/syntax","display_name":"Syntax","score":0.46388939023017883},{"id":"https://openalex.org/keywords/natural-language-processing","display_name":"Natural language processing","score":0.4532535672187805},{"id":"https://openalex.org/keywords/regular-expression","display_name":"Regular expression","score":0.4336380660533905},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.426251620054245},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.4178633987903595},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.4022013247013092},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.364524781703949},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.35266080498695374},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.3088769316673279},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2718800902366638},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.22210803627967834},{"id":"https://openalex.org/keywords/taxonomy","display_name":"Taxonomy (biology)","score":0.21429985761642456},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.20117458701133728}],"concepts":[{"id":"https://openalex.org/C62177273","wikidata":"https://www.wikidata.org/wiki/Q5531556","display_name":"Gene nomenclature","level":4,"score":0.6776546239852905},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.63542240858078},{"id":"https://openalex.org/C514705636","wikidata":"https://www.wikidata.org/wiki/Q863247","display_name":"Nomenclature","level":3,"score":0.5661447644233704},{"id":"https://openalex.org/C60048249","wikidata":"https://www.wikidata.org/wiki/Q37437","display_name":"Syntax","level":2,"score":0.46388939023017883},{"id":"https://openalex.org/C204321447","wikidata":"https://www.wikidata.org/wiki/Q30642","display_name":"Natural language processing","level":1,"score":0.4532535672187805},{"id":"https://openalex.org/C121329065","wikidata":"https://www.wikidata.org/wiki/Q185612","display_name":"Regular expression","level":2,"score":0.4336380660533905},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.426251620054245},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4178633987903595},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.4022013247013092},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.364524781703949},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.35266080498695374},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.3088769316673279},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2718800902366638},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.22210803627967834},{"id":"https://openalex.org/C58642233","wikidata":"https://www.wikidata.org/wiki/Q8269924","display_name":"Taxonomy (biology)","level":2,"score":0.21429985761642456},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20117458701133728},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009626","descriptor_name":"Terminology as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009626","descriptor_name":"Terminology as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009626","descriptor_name":"Terminology as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","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":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/1471-2105-12-s4-s5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-12-s4-s5","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-S4-S5","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:21992071","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21992071","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:lumc:oai:openaccess.leidenuniv.nl:1887/120295","is_oa":false,"landing_page_url":"http://hdl.handle.net/1887/120295","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"VOLUME=12 Suppl 4;TITLE=None","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:europepmc.org:2197270","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3194197","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:scholarlypublications.universiteitleiden.nl:item_3014331","is_oa":false,"landing_page_url":"https://hdl.handle.net/1887/120295","pdf_url":null,"source":{"id":"https://openalex.org/S4306400850","display_name":"Leiden Repository (Leiden University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I121797337","host_organization_name":"Leiden University","host_organization_lineage":["https://openalex.org/I121797337"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Article / Letter to editor"}],"best_oa_location":{"id":"doi:10.1186/1471-2105-12-s4-s5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-12-s4-s5","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/1471-2105-12-S4-S5","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.4099999964237213,"display_name":"Quality Education","id":"https://metadata.un.org/sdg/4"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2155074506.pdf","grobid_xml":"https://content.openalex.org/works/W2155074506.grobid-xml"},"referenced_works_count":21,"referenced_works":["https://openalex.org/W1554992605","https://openalex.org/W1863395362","https://openalex.org/W1997463836","https://openalex.org/W2005058680","https://openalex.org/W2037458235","https://openalex.org/W2059600528","https://openalex.org/W2074133193","https://openalex.org/W2090431268","https://openalex.org/W2099101325","https://openalex.org/W2102777243","https://openalex.org/W2104416102","https://openalex.org/W2112245868","https://openalex.org/W2119412782","https://openalex.org/W2120433106","https://openalex.org/W2126276057","https://openalex.org/W2127603354","https://openalex.org/W2131285447","https://openalex.org/W2140107851","https://openalex.org/W2140519398","https://openalex.org/W2169767349","https://openalex.org/W2339359539"],"related_works":["https://openalex.org/W4376630906","https://openalex.org/W4291008795","https://openalex.org/W4225832891","https://openalex.org/W2152921313","https://openalex.org/W2340807833","https://openalex.org/W1602927283","https://openalex.org/W2045050359","https://openalex.org/W1902770889","https://openalex.org/W2113570728","https://openalex.org/W1532779133"],"abstract_inverted_index":{"BACKGROUND:":[0],"The":[1,67,171,189,227,295,312],"use":[2],"of":[3,40,61,69,81,88,96,133,157,205,234,238,241,256,266,280,304,318,331],"a":[4,31,125],"standard":[5],"human":[6,43,159],"sequence":[7,44,160,209,243,333,346],"variant":[8,82,115,122,161,165,180,210,224,244,306,334,347],"nomenclature":[9,123,211,272,282],"is":[10,30,77,91],"advocated":[11],"by":[12,93,325],"the":[13,38,59,72,94,97,104,109,120,134,142,148,158,184,202,206,235,239,242,250,254,257,260,267,278,281,329],"Human":[14,268],"Genome":[15,269],"Variation":[16,270],"Society":[17,271],"in":[18,25,114,136,183,249],"order":[19],"to":[20,107,154,177,200,218,286],"unambiguously":[21],"describe":[22],"genetic":[23],"variants":[24,45,63,70],"databases":[26,51],"and":[27,46,52,64,74,128,145,191,198,253,263,289,338],"literature.":[28,53],"There":[29],"clear":[32,290],"need":[33],"for":[34,79,84,292],"tools":[35,90,337],"that":[36,300],"allow":[37],"mining":[39,56,336],"data":[41,83],"about":[42],"their":[47,65,309],"functional":[48],"consequences":[49],"from":[50],"Existing":[54],"text":[55,335],"focuses":[57],"on":[58],"recognition":[60,68],"protein":[62,149,264],"effects.":[66],"at":[71,103,141,147],"DNA":[73,190],"RNA":[75,192,262],"levels":[76],"essential":[78],"dissemination":[80],"diagnostic":[85],"purposes.":[86],"Development":[87],"new":[89],"hampered":[92],"complexity":[95,237],"current":[98],"nomenclature,":[99,162,245],"which":[100,213,246,341],"requires":[101],"processing":[102],"character":[105],"level":[106,144,193],"recognize":[108],"specific":[110,332],"syntactic":[111],"constructs":[112],"used":[113,199,217,285,322],"descriptions.":[116,225,348],"RESULTS:":[117],"We":[118],"approached":[119],"gene":[121],"as":[124],"scientific":[126],"sublanguage":[127],"created":[129],"two":[130],"formal":[131],"descriptions":[132,194,307],"syntax":[135,240,279],"Extended":[137,228,313],"Backus-Naur":[138,229,314],"Form:":[139],"one":[140,146,222],"DNA-RNA":[143],"level.":[150],"To":[151],"ensure":[152],"compatibility":[153],"older":[155],"versions":[156,174],"previously":[163],"recommended":[164],"description":[166,181],"formats":[167],"have":[168],"been":[169,216],"included.":[170],"first":[172],"grammar":[173],"were":[175,195],"designed":[176],"help":[178],"build":[179],"handling":[182],"Alamut":[185],"mutation":[186],"interpretation":[187],"software.":[188],"then":[196],"updated":[197],"construct":[201],"context-free":[203],"parser":[204,298],"Mutalyzer":[207,296],"2":[208,297],"checker,":[212],"has":[214],"already":[215],"check":[219],"more":[220],"than":[221],"million":[223],"CONCLUSIONS:":[226],"Form":[230,315],"provided":[231],"an":[232],"overview":[233],"full":[236],"remained":[247],"hidden":[248],"textual":[251],"format":[252],"division":[255],"recommendations":[258],"across":[259],"DNA,":[261],"sections":[265],"website":[273],"(http://www.hgvs.org/mutnomen/).":[274],"This":[275],"insight":[276],"into":[277,308],"could":[283],"be":[284,321],"design":[287],"detailed":[288],"rules":[291],"software":[293],"development.":[294],"demonstrated":[299],"it":[301,319],"facilitated":[302],"decomposition":[303],"complex":[305],"individual":[310],"parts.":[311],"or":[316,323,344],"parts":[317],"can":[320,342],"modified":[324],"adding":[326],"rules,":[327],"allowing":[328],"development":[330],"other":[339],"programs,":[340],"generate":[343],"handle":[345]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-07-23T08:03:31.855105","created_date":"2025-10-10T00:00:00"}