{"id":"https://openalex.org/W2016591124","doi":"https://doi.org/10.1371/journal.pcbi.1002827","title":"Chapter 9: Analyses Using Disease Ontologies","display_name":"Chapter 9: Analyses Using Disease Ontologies","publication_year":2012,"publication_date":"2012-12-27","ids":{"openalex":"https://openalex.org/W2016591124","doi":"https://doi.org/10.1371/journal.pcbi.1002827","mag":"2016591124","pmid":"https://pubmed.ncbi.nlm.nih.gov/23300417","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3531278"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1002827","doi":"https://doi.org/10.1371/journal.pcbi.1002827","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002827","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002827&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","ccf-b","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002827&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5041175834","display_name":"Nigam Haresh Shah","orcid":"https://orcid.org/0000-0001-9385-7158","observed_orcids":["https://orcid.org/0000-0001-9385-7158"]},"institutions":[{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Nigam H. Shah","raw_affiliation_strings":["Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America. nigam@stanford.edu","Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America. nigam@stanford.edu","institution_ids":["https://openalex.org/I97018004"]},{"raw_affiliation_string":"Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033293845","display_name":"Tyler S. Cole","orcid":"https://orcid.org/0000-0003-3165-6048","observed_orcids":["https://orcid.org/0000-0003-3165-6048"]},"institutions":[{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tyler Cole","raw_affiliation_strings":["Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America","institution_ids":["https://openalex.org/I97018004"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009128820","display_name":"Mark A. Musen","orcid":"https://orcid.org/0000-0003-3325-793X","observed_orcids":["https://orcid.org/0000-0003-3325-793X"]},"institutions":[{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark A. Musen","raw_affiliation_strings":["Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biomedical Informatics Research, Stanford University, Stanford, California, United States of America","institution_ids":["https://openalex.org/I97018004"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5041175834"],"corresponding_institution_ids":["https://openalex.org/I97018004"],"apc_list":{"value":3043,"currency":"USD","value_usd":3043},"apc_paid":{"value":3043,"currency":"USD","value_usd":3043},"fwci":1.7937,"has_fulltext":true,"cited_by_count":25,"citation_normalized_percentile":{"value":0.8420833,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"8","issue":"12","first_page":"e1002827","last_page":"e1002827"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.5317000150680542,"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"}},"topics":[{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.5317000150680542,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.46560001373291016,"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":0.00039999998989515007,"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/disease-ontology","display_name":"disease ontology","score":0.9210000038146973},{"id":"https://openalex.org/keywords/enrichment-analysis","display_name":"enrichment analysis","score":0.8730000257492065},{"id":"https://openalex.org/keywords/gene-ontology","display_name":"Gene Ontology","score":0.9390000104904175},{"id":"https://openalex.org/keywords/ontology-based-annotation","display_name":"ontology annotation","score":0.5590000152587891},{"id":"https://openalex.org/keywords/gene-set-enrichment-analysis","display_name":"gene set enrichment analysis","score":0.42899999022483826},{"id":"https://openalex.org/keywords/differentially-expressed-genes","display_name":"differentially expressed genes","score":0.7250000238418579},{"id":"https://openalex.org/keywords/high-throughput-data","display_name":"high-throughput data","score":0.5699999928474426},{"id":"https://openalex.org/keywords/bioportal","display_name":"BioPortal","score":0.5870000123977661},{"id":"https://openalex.org/keywords/o-glycosylation","display_name":"O-glycosylation","score":0.7329999804496765},{"id":"https://openalex.org/keywords/coagulopathy","display_name":"coagulopathy","score":0.9440000057220459},{"id":"https://openalex.org/keywords/protein-mutations","display_name":"protein mutations","score":0.5789999961853027},{"id":"https://openalex.org/keywords/biomedical-ontologies","display_name":"biomedical ontologies","score":0.7870000004768372}],"concepts":[{"id":"https://openalex.org/C2987395477","wikidata":"https://www.wikidata.org/wiki/Q135085","display_name":"Gene ontology","level":4,"score":0.5897366404533386},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.532772421836853},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.5204351544380188},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5147662162780762},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.49468061327934265},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.47492843866348267},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3515251874923706},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2761581540107727},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.24984973669052124},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001331","descriptor_name":"Automation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001331","descriptor_name":"Automation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001331","descriptor_name":"Automation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000145","qualifier_name":"classification","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1371/journal.pcbi.1002827","doi":"https://doi.org/10.1371/journal.pcbi.1002827","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002827","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002827&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","ccf-b","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3531278","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3531278","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"},{"id":"pmid:23300417","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23300417","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":"PLoS computational biology","raw_type":"Journal Article"},{"id":"pmh:oai:RePEc:plo:pcbi00:1002827","doi":null,"is_oa":false,"landing_page_url":"https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1002827","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"},{"id":"pmh:oai:doaj.org/article:b15b6283db404acc8279c088cbac6c2f","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/b15b6283db404acc8279c088cbac6c2f","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 8, Iss 12, p e1002827 (2012)","raw_type":"article"},{"id":"pmh:oai:figshare.com:article/115234","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/dataset/Chapter_9_Analyses_Using_Disease_Ontologies_/115234","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"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":"","raw_type":"Dataset"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1002827","doi":"https://doi.org/10.1371/journal.pcbi.1002827","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1002827","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1002827&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","ccf-b","cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.428600013256073}],"sustainable_development_goals_aurora":[{"display_name":"Industry, innovation and infrastructure","id":"https://metadata.un.org/sdg/9","score":0.6000000238418579}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2225135173","display_name":null,"funder_award_id":"U54 HG004028","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000032573","display_name":null,"funder_award_id":"U54 HG004028","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"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"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2016591124.pdf","grobid_xml":"https://content.openalex.org/works/W2016591124.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W42742550","https://openalex.org/W91361357","https://openalex.org/W102787101","https://openalex.org/W1535641839","https://openalex.org/W1596515083","https://openalex.org/W1887202616","https://openalex.org/W1996838831","https://openalex.org/W2004975621","https://openalex.org/W2032136732","https://openalex.org/W2045729458","https://openalex.org/W2060406328","https://openalex.org/W2083045667","https://openalex.org/W2106252902","https://openalex.org/W2106797966","https://openalex.org/W2111903862","https://openalex.org/W2113142309","https://openalex.org/W2118957830","https://openalex.org/W2120024428","https://openalex.org/W2130410032","https://openalex.org/W2130930065","https://openalex.org/W2130958518","https://openalex.org/W2131660156","https://openalex.org/W2133111499","https://openalex.org/W2134015035","https://openalex.org/W2135230352","https://openalex.org/W2137623997","https://openalex.org/W2139703939","https://openalex.org/W2144907278","https://openalex.org/W2151337118","https://openalex.org/W2152896172","https://openalex.org/W2157795344","https://openalex.org/W2159941448","https://openalex.org/W2166574880","https://openalex.org/W2412696399","https://openalex.org/W4234895322","https://openalex.org/W4294107304"],"related_works":["https://openalex.org/W7098550458","https://openalex.org/W2106252902","https://openalex.org/W1887202616","https://openalex.org/W1481210918","https://openalex.org/W7095150699","https://openalex.org/W2845591014","https://openalex.org/W2989776935","https://openalex.org/W1979736490","https://openalex.org/W4245925968","https://openalex.org/W4408956958"],"abstract_inverted_index":{"Advanced":[0],"statistical":[1],"methods":[2,167,294],"used":[3,74],"to":[4,21,32,64,75,119,281,285,295],"analyze":[5],"high-throughput":[6,82],"data":[7],"such":[8,342],"as":[9,65,187],"gene-expression":[10],"assays":[11],"result":[12],"in":[13,54,102,136,196,216,237,256,303,341],"long":[14],"lists":[15],"of":[16,27,57,78,81,87,98,110,144,168,179,184,199,212,219,246,265,270,313,329,338],"\"significant":[17],"genes.\"":[18],"One":[19],"way":[20],"gain":[22],"insight":[23],"into":[24],"the":[25,55,79,92,107,115,124,129,145,152,160,166,176,235,263,286,304,310,316,321,327,336],"significance":[26],"altered":[28],"expression":[29],"levels":[30],"is":[31,72,90,95,118,194,214,278],"determine":[33,106],"whether":[34],"Gene":[35],"Ontology":[36],"(GO)":[37],"terms":[38,233,273],"associated":[39,251,317],"with":[40,123,231,252,272],"a":[41,69,96,111,142,244,253],"particular":[42],"biological":[43,108,146,192],"process,":[44,62],"molecular":[45],"function,":[46],"or":[47,52,148,202,222],"cellular":[48],"component":[49],"are":[50,171],"over-":[51],"under-represented":[53],"set":[56,198,218],"genes":[58,99,201,221],"deemed":[59],"significant.":[60],"This":[61],"referred":[63],"enrichment":[66,88,121,164,169,283,297,314],"analysis,":[67,165,315],"profiles":[68],"gene-set,":[70],"and":[71,139,319,334],"widely":[73],"makes":[76],"sense":[77],"results":[80],"experiments.":[83],"The":[84],"canonical":[85],"example":[86],"analysis":[89,122,170,298],"when":[91],"output":[93],"dataset":[94],"list":[97],"differentially":[100],"expressed":[101],"some":[103],"condition.":[104],"To":[105],"relevance":[109],"lengthy":[112],"gene":[113,135],"list,":[114,138],"usual":[116],"solution":[117],"perform":[120,296],"GO.":[125,287],"We":[126,173,307],"can":[127,174,189,205],"aggregate":[128],"annotating":[130,227],"GO":[131,157],"concepts":[132],"for":[133,163,267],"each":[134],"this":[137,289],"arrive":[140],"at":[141,258],"profile":[143],"processes":[147],"mechanisms":[149],"affected":[150],"by":[151,226,326,335],"condition":[153],"under":[154],"study.":[155],"While":[156],"has":[158],"been":[159],"principal":[161],"target":[162],"generalizable.":[172],"conduct":[175],"same":[177],"sort":[178],"profiling":[180],"along":[181],"other":[182],"ontologies":[183,236,340],"interest.":[185],"Just":[186],"scientists":[188],"ask":[190,207],"\"Which":[191,208],"process":[193],"over-represented":[195,215],"my":[197,217],"interesting":[200,220],"proteins?\"":[203],"we":[204,291],"also":[206],"disease":[209,232,275,339],"(or":[210],"class":[211,245],"diseases)":[213],"proteins?\".":[223],"For":[224],"example,":[225],"known":[228],"protein":[229],"mutations":[230],"from":[234,274],"BioPortal,":[238],"Mort":[239],"et":[240],"al.":[241],"recently":[242],"identified":[243],"diseases--blood":[247],"coagulation":[248],"disorders--that":[249],"were":[250],"14-fold":[254],"depletion":[255],"substitutions":[257],"O-linked":[259],"glycosylation":[260],"sites.":[261],"With":[262],"availability":[264],"tools":[266],"automatic":[268],"annotation":[269],"datasets":[271],"ontologies,":[276],"there":[277],"no":[279],"reason":[280],"restrict":[282],"analyses":[284,324],"In":[288],"chapter,":[290],"will":[292,308],"discuss":[293,320],"using":[299],"any":[300],"ontology":[301],"available":[302],"biomedical":[305],"domain.":[306],"review":[309],"general":[311],"methodology":[312],"challenges,":[318],"novel":[322],"translational":[323],"enabled":[325],"existence":[328],"public,":[330],"national":[331],"computational":[332],"infrastructure":[333],"use":[337],"analyses.":[343]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":4}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2016-06-24T00:00:00"}