{"id":"https://openalex.org/W2060726486","doi":"https://doi.org/10.1080/14636778.2012.735855","title":"Locating genetic disease: the impact of clinical nosology on biomedical conceptions of the human genome (1966\u20131990)","display_name":"Locating genetic disease: the impact of clinical nosology on biomedical conceptions of the human genome (1966\u20131990)","publication_year":2012,"publication_date":"2012-10-25","ids":{"openalex":"https://openalex.org/W2060726486","doi":"https://doi.org/10.1080/14636778.2012.735855","mag":"2060726486"},"language":"en","primary_location":{"id":"doi:10.1080/14636778.2012.735855","doi":"https://doi.org/10.1080/14636778.2012.735855","is_oa":true,"landing_page_url":"https://doi.org/10.1080/14636778.2012.735855","pdf_url":"https://www.tandfonline.com/doi/pdf/10.1080/14636778.2012.735855?needAccess=true&role=button","source":{"id":"https://openalex.org/S144076420","display_name":"New Genetics and Society","issn_l":"1463-6778","issn":["1463-6778","1469-9915"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","jufo-1","norway-1","oarl","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New Genetics and Society","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.tandfonline.com/doi/pdf/10.1080/14636778.2012.735855?needAccess=true&role=button","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5084742564","display_name":"Andrew J. Hogan","orcid":"https://orcid.org/0000-0001-7125-4436","observed_orcids":["https://orcid.org/0000-0001-7125-4436"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Andrew J. Hogan","raw_affiliation_strings":["Department of History and Sociology of Science, University of Pennsylvania, Philadelphia, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of History and Sociology of Science, University of Pennsylvania, Philadelphia, USA","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5084742564"],"corresponding_institution_ids":["https://openalex.org/I79576946"],"apc_list":{"value":1450,"currency":"EUR","value_usd":1590},"apc_paid":null,"fwci":8.6238,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.97039188,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"32","issue":"1","first_page":"78","last_page":"96"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10778","display_name":"Philosophy and History of Science","score":0.7250999808311462,"subfield":{"id":"https://openalex.org/subfields/1207","display_name":"History and Philosophy of Science"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T10778","display_name":"Philosophy and History of Science","score":0.7250999808311462,"subfield":{"id":"https://openalex.org/subfields/1207","display_name":"History and Philosophy of Science"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T14475","display_name":"History of Science and Medicine","score":0.2078000009059906,"subfield":{"id":"https://openalex.org/subfields/1207","display_name":"History and Philosophy of Science"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T12749","display_name":"Race, Genetics, and Society","score":0.013500000350177288,"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/human-genome","display_name":"human genome","score":0.7570000290870667},{"id":"https://openalex.org/keywords/prader-willi-syndrome","display_name":"Prader-Willi syndrome","score":0.9350000023841858},{"id":"https://openalex.org/keywords/angelman-syndrome","display_name":"Angelman syndrome","score":1.0},{"id":"https://openalex.org/keywords/chromosome-mapping","display_name":"chromosome mapping","score":0.46700000762939453},{"id":"https://openalex.org/keywords/human-genome-project","display_name":"Human Genome Project","score":0.6809999942779541},{"id":"https://openalex.org/keywords/history-of-genetics","display_name":"history of genetics","score":0.5040000081062317}],"concepts":[{"id":"https://openalex.org/C66782513","wikidata":"https://www.wikidata.org/wiki/Q864601","display_name":"Biomedicine","level":2,"score":0.769126296043396},{"id":"https://openalex.org/C72852651","wikidata":"https://www.wikidata.org/wiki/Q845300","display_name":"Nosology","level":2,"score":0.5930574536323547},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.5689056515693665},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5631569623947144},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5625914335250854},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.4589032530784607},{"id":"https://openalex.org/C2780876879","wikidata":"https://www.wikidata.org/wiki/Q3054749","display_name":"Meaning (existential)","level":2,"score":0.43577444553375244},{"id":"https://openalex.org/C2779974597","wikidata":"https://www.wikidata.org/wiki/Q28448986","display_name":"Clinical Practice","level":2,"score":0.4119095206260681},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34179383516311646},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3179515600204468},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.31687110662460327},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21756649017333984},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.18103447556495667},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.14497512578964233},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.14180412888526917},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1080/14636778.2012.735855","doi":"https://doi.org/10.1080/14636778.2012.735855","is_oa":true,"landing_page_url":"https://doi.org/10.1080/14636778.2012.735855","pdf_url":"https://www.tandfonline.com/doi/pdf/10.1080/14636778.2012.735855?needAccess=true&role=button","source":{"id":"https://openalex.org/S144076420","display_name":"New Genetics and Society","issn_l":"1463-6778","issn":["1463-6778","1469-9915"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","jufo-1","norway-1","oarl","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New Genetics and Society","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1080/14636778.2012.735855","doi":"https://doi.org/10.1080/14636778.2012.735855","is_oa":true,"landing_page_url":"https://doi.org/10.1080/14636778.2012.735855","pdf_url":"https://www.tandfonline.com/doi/pdf/10.1080/14636778.2012.735855?needAccess=true&role=button","source":{"id":"https://openalex.org/S144076420","display_name":"New Genetics and Society","issn_l":"1463-6778","issn":["1463-6778","1469-9915"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","jufo-1","norway-1","oarl","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New Genetics and Society","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5683000087738037,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.41999998688697815,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2060726486.pdf","grobid_xml":"https://content.openalex.org/works/W2060726486.grobid-xml"},"referenced_works_count":91,"referenced_works":["https://openalex.org/W75390346","https://openalex.org/W93080713","https://openalex.org/W143746771","https://openalex.org/W200646366","https://openalex.org/W271568839","https://openalex.org/W314960756","https://openalex.org/W579473957","https://openalex.org/W612604114","https://openalex.org/W631723770","https://openalex.org/W1488111828","https://openalex.org/W1494762587","https://openalex.org/W1530535913","https://openalex.org/W1565038541","https://openalex.org/W1594291205","https://openalex.org/W1597901734","https://openalex.org/W1603461313","https://openalex.org/W1607086254","https://openalex.org/W1870363257","https://openalex.org/W1953000548","https://openalex.org/W1965991578","https://openalex.org/W1969503532","https://openalex.org/W1973430357","https://openalex.org/W1975813661","https://openalex.org/W1975863755","https://openalex.org/W1979471298","https://openalex.org/W1984010327","https://openalex.org/W1989006523","https://openalex.org/W1992135675","https://openalex.org/W1992357642","https://openalex.org/W1998460240","https://openalex.org/W2003297134","https://openalex.org/W2004832712","https://openalex.org/W2008296513","https://openalex.org/W2009729263","https://openalex.org/W2010538574","https://openalex.org/W2015164830","https://openalex.org/W2017658252","https://openalex.org/W2017955304","https://openalex.org/W2027816595","https://openalex.org/W2029299113","https://openalex.org/W2030084832","https://openalex.org/W2033435533","https://openalex.org/W2040138289","https://openalex.org/W2041588941","https://openalex.org/W2042349004","https://openalex.org/W2043882061","https://openalex.org/W2047338529","https://openalex.org/W2059938162","https://openalex.org/W2060992986","https://openalex.org/W2066836394","https://openalex.org/W2071741589","https://openalex.org/W2071764376","https://openalex.org/W2072002782","https://openalex.org/W2077647743","https://openalex.org/W2082607914","https://openalex.org/W2085633052","https://openalex.org/W2091977853","https://openalex.org/W2108201553","https://openalex.org/W2113728534","https://openalex.org/W2122954728","https://openalex.org/W2128789657","https://openalex.org/W2136471342","https://openalex.org/W2159164525","https://openalex.org/W2163284576","https://openalex.org/W2240615446","https://openalex.org/W2314084702","https://openalex.org/W2329155589","https://openalex.org/W2334518286","https://openalex.org/W2334930053","https://openalex.org/W2339359539","https://openalex.org/W2395623534","https://openalex.org/W2416150561","https://openalex.org/W2416854942","https://openalex.org/W2418686086","https://openalex.org/W2462826484","https://openalex.org/W2602587612","https://openalex.org/W2921064181","https://openalex.org/W3182459196","https://openalex.org/W3194669309","https://openalex.org/W4229856950","https://openalex.org/W4230719409","https://openalex.org/W4234004815","https://openalex.org/W4235019056","https://openalex.org/W4244021162","https://openalex.org/W4245207454","https://openalex.org/W4246965353","https://openalex.org/W4249160076","https://openalex.org/W4252179851","https://openalex.org/W4252247883","https://openalex.org/W4253551368","https://openalex.org/W4293377679"],"related_works":["https://openalex.org/W3037442807","https://openalex.org/W7097690140","https://openalex.org/W2044820414","https://openalex.org/W1570033782","https://openalex.org/W2102581617","https://openalex.org/W2168301815","https://openalex.org/W2301768352","https://openalex.org/W4280532912","https://openalex.org/W1967308122","https://openalex.org/W4312301979"],"abstract_inverted_index":{"The":[0],"variability":[1],"of":[2,75,91,104,125,135,158],"disease":[3],"expression":[4],"often":[5],"complicates":[6],"clinical":[7,71],"classification.":[8],"Since":[9],"the":[10,27,38,57,70,81,99,102,105,109,126,133,137,156],"1960s,":[11],"medical":[12],"geneticists":[13],"have":[14],"sought":[15],"to":[16,113],"address":[17],"this":[18,31,76],"problem":[19],"by":[20,83],"associating":[21],"diseases":[22],"with":[23,56],"discrete":[24],"locations":[25],"in":[26,37,95],"human":[28,127],"genome.":[29],"While":[30],"nosological":[32,65],"approach":[33],"was":[34,86,111],"quite":[35],"successful":[36],"1980s,":[39],"unanticipated":[40],"complications":[41],"arose.":[42],"In":[43,98],"1987,":[44],"two":[45],"historically":[46],"distinct":[47],"disorders,":[48],"Prader-Willi":[49],"and":[50,72,78,93,121,130,144,163],"Angelman":[51],"syndromes,":[52],"were":[53],"unexpectedly":[54],"associated":[55],"same":[58],"genomic":[59,62],"\u201caddress.\u201d":[60],"Does":[61],"overlap":[63],"imply":[64],"sameness?":[66],"This":[67],"paper":[68],"explores":[69],"biological":[73],"implications":[74],"finding,":[77],"argues":[79],"that":[80,154],"process":[82],"which":[84],"it":[85],"resolved":[87],"represented":[88],"new":[89],"modes":[90],"thinking":[92],"practice":[94],"late-twentieth-century":[96,148],"biomedicine.":[97],"decades":[100],"before":[101],"completion":[103],"Human":[106],"Genome":[107],"Project,":[108],"genome":[110,138],"understood":[112],"be,":[114],"at":[115,132],"once,":[116],"a":[117],"standardized":[118],"scientific":[119],"object":[120],"an":[122,140],"observable":[123],"part":[124],"anatomy.":[128],"Depicted":[129],"analyzed":[131],"level":[134],"chromosomes,":[136],"became":[139],"important":[141],"conceptual":[142],"space":[143],"experimental":[145],"system":[146],"for":[147],"biomedicine,":[149],"producing":[150],"novel":[151],"research":[152],"questions":[153],"drew":[155],"attention":[157],"both":[159],"clinically":[160],"oriented":[161],"physicians":[162],"basic":[164],"laboratory":[165],"geneticists.":[166]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2016-06-24T00:00:00"}
