{"id":"https://openalex.org/W2162935122","doi":"https://doi.org/10.1186/1751-0473-8-21","title":"Dispelling myths about rare disease registry system development","display_name":"Dispelling myths about rare disease registry system development","publication_year":2013,"publication_date":"2013-10-16","ids":{"openalex":"https://openalex.org/W2162935122","doi":"https://doi.org/10.1186/1751-0473-8-21","mag":"2162935122","pmid":"https://pubmed.ncbi.nlm.nih.gov/24131574"},"language":"en","primary_location":{"id":"doi:10.1186/1751-0473-8-21","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1751-0473-8-21","pdf_url":"https://scfbm.biomedcentral.com/counter/pdf/10.1186/1751-0473-8-21","source":{"id":"https://openalex.org/S45786803","display_name":"Source Code for Biology and Medicine","issn_l":"1751-0473","issn":["1751-0473"],"is_oa":false,"is_in_doaj":false,"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":"Source Code for Biology and Medicine","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://scfbm.biomedcentral.com/counter/pdf/10.1186/1751-0473-8-21","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5044207304","display_name":"M. Bellgard","orcid":"https://orcid.org/0000-0002-6303-9469"},"institutions":[{"id":"https://openalex.org/I176790772","display_name":"Murdoch University","ror":"https://ror.org/00r4sry34","country_code":"AU","type":"education","lineage":["https://openalex.org/I176790772"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Matthew Bellgard","raw_affiliation_strings":["Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia. mbellgard@ccg.murdoch.edu.au","Centre for Comparative Genomics, Murdoch University, Perth, 6150, Western Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia. mbellgard@ccg.murdoch.edu.au","institution_ids":["https://openalex.org/I176790772"]},{"raw_affiliation_string":"Centre for Comparative Genomics, Murdoch University, Perth, 6150, Western Australia","institution_ids":["https://openalex.org/I176790772"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085042865","display_name":"Christophe B\u00e9roud","orcid":"https://orcid.org/0000-0003-2986-8738"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe Beroud","raw_affiliation_strings":["AP-HM, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital d\u2019enfants Timone, Marseille, France","Aix-Marseille Universit\u00e9, Facult\u00e9 de M\u00e9decine de la Timone, INSERM UMR 910, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HM, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital d\u2019enfants Timone, Marseille, France","institution_ids":["https://openalex.org/I4210162909"]},{"raw_affiliation_string":"Aix-Marseille Universit\u00e9, Facult\u00e9 de M\u00e9decine de la Timone, INSERM UMR 910, Marseille, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037726629","display_name":"Kay Parkinson","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kay Parkinson","raw_affiliation_strings":["Alstrom Syndrome, 49 Southfield Ave, Paignton S, Devon, TQ3 1LH, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Alstrom Syndrome, 49 Southfield Ave, Paignton S, Devon, TQ3 1LH, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017323139","display_name":"Tess Harris","orcid":"https://orcid.org/0000-0003-3659-7438"},"institutions":[{"id":"https://openalex.org/I4210095501","display_name":"Kidney Care UK","ror":"https://ror.org/00rnp5y61","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I4210095501"]},{"id":"https://openalex.org/I4405269323","display_name":"Polycystic Kidney Disease Charity","ror":"https://ror.org/03t67n896","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I4405269323"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Tess Harris","raw_affiliation_strings":["Polycystic Kidney Disease Charity (UK), PKD International, Ciliopathy Alliance, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Polycystic Kidney Disease Charity (UK), PKD International, Ciliopathy Alliance, London, UK","institution_ids":["https://openalex.org/I4210095501","https://openalex.org/I4405269323"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110448858","display_name":"S\u00e9gol\u00e8ne Aym\u00e9","orcid":null},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210133579","display_name":"Orphanet","ror":"https://ror.org/03d3kf570","country_code":"FR","type":"other","lineage":["https://openalex.org/I4210133579"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Segolene Ayme","raw_affiliation_strings":["INSERM US14, ORPHANET 96 rue Didot, Paris, 75014, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM US14, ORPHANET 96 rue Didot, Paris, 75014, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210133579"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089939981","display_name":"Gareth Baynam","orcid":"https://orcid.org/0000-0003-4920-9553"},"institutions":[{"id":"https://openalex.org/I176790772","display_name":"Murdoch University","ror":"https://ror.org/00r4sry34","country_code":"AU","type":"education","lineage":["https://openalex.org/I176790772"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I2801351171","display_name":"King Edward Memorial Hospital","ror":"https://ror.org/00ns3e792","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801351171"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Gareth Baynam","raw_affiliation_strings":["Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia","Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia","School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I2801351171"]},{"raw_affiliation_string":"Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I176790772"]},{"raw_affiliation_string":"School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I177877127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074450493","display_name":"Tarun Weeramanthri","orcid":"https://orcid.org/0000-0003-2796-7345"},"institutions":[{"id":"https://openalex.org/I2799506148","display_name":"Government of Western Australia","ror":"https://ror.org/00wqdbc63","country_code":"AU","type":"government","lineage":["https://openalex.org/I2799506148"]},{"id":"https://openalex.org/I2800882159","display_name":"Government of Western Australia Department of Health","ror":"https://ror.org/01epcny94","country_code":"AU","type":"government","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800882159"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Tarun Weeramanthri","raw_affiliation_strings":["Office of Population Health Genomics, Public Health and Clinical Services Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Office of Population Health Genomics, Public Health and Clinical Services Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I2799506148","https://openalex.org/I2800882159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110914998","display_name":"Hugh Dawkins","orcid":null},"institutions":[{"id":"https://openalex.org/I176790772","display_name":"Murdoch University","ror":"https://ror.org/00r4sry34","country_code":"AU","type":"education","lineage":["https://openalex.org/I176790772"]},{"id":"https://openalex.org/I177877127","display_name":"The University of Western Australia","ror":"https://ror.org/047272k79","country_code":"AU","type":"education","lineage":["https://openalex.org/I177877127"]},{"id":"https://openalex.org/I205640436","display_name":"Curtin University","ror":"https://ror.org/02n415q13","country_code":"AU","type":"education","lineage":["https://openalex.org/I205640436"]},{"id":"https://openalex.org/I2799506148","display_name":"Government of Western Australia","ror":"https://ror.org/00wqdbc63","country_code":"AU","type":"government","lineage":["https://openalex.org/I2799506148"]},{"id":"https://openalex.org/I2800882159","display_name":"Government of Western Australia Department of Health","ror":"https://ror.org/01epcny94","country_code":"AU","type":"government","lineage":["https://openalex.org/I2799506148","https://openalex.org/I2800882159"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Hugh Dawkins","raw_affiliation_strings":["Centre for Comparative Genomics, Murdoch University, Perth, 6150, Western Australia","Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia","Office of Population Health Genomics, Public Health and Clinical Services Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia","School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Comparative Genomics, Murdoch University, Perth, 6150, Western Australia","institution_ids":["https://openalex.org/I176790772"]},{"raw_affiliation_string":"Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I205640436"]},{"raw_affiliation_string":"Office of Population Health Genomics, Public Health and Clinical Services Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I2799506148","https://openalex.org/I2800882159"]},{"raw_affiliation_string":"School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia","institution_ids":["https://openalex.org/I177877127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042391054","display_name":"Adam Hunter","orcid":"https://orcid.org/0000-0002-9458-606X"},"institutions":[{"id":"https://openalex.org/I176790772","display_name":"Murdoch University","ror":"https://ror.org/00r4sry34","country_code":"AU","type":"education","lineage":["https://openalex.org/I176790772"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Adam Hunter","raw_affiliation_strings":["Centre for Comparative Genomics, Murdoch University, Perth, 6150, Western Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Comparative Genomics, Murdoch University, Perth, 6150, Western Australia","institution_ids":["https://openalex.org/I176790772"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5044207304"],"corresponding_institution_ids":["https://openalex.org/I176790772"],"apc_list":{"value":2040,"currency":"USD","value_usd":2040},"apc_paid":{"value":2040,"currency":"USD","value_usd":2040},"fwci":3.5795,"has_fulltext":true,"cited_by_count":85,"citation_normalized_percentile":{"value":0.93158107,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"8","issue":"1","first_page":"21","last_page":"21"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9965000152587891,"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":0.9965000152587891,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9919000267982483,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9688000082969666,"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/cornerstone","display_name":"Cornerstone","score":0.8798816204071045},{"id":"https://openalex.org/keywords/interoperability","display_name":"Interoperability","score":0.8493016958236694},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6093361973762512},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.5828961730003357},{"id":"https://openalex.org/keywords/checklist","display_name":"Checklist","score":0.52195805311203},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.4686402976512909},{"id":"https://openalex.org/keywords/key","display_name":"Key (lock)","score":0.4332427382469177},{"id":"https://openalex.org/keywords/rare-disease","display_name":"Rare disease","score":0.4301440715789795},{"id":"https://openalex.org/keywords/risk-analysis","display_name":"Risk analysis (engineering)","score":0.4293312430381775},{"id":"https://openalex.org/keywords/knowledge-management","display_name":"Knowledge management","score":0.4105612635612488},{"id":"https://openalex.org/keywords/process-management","display_name":"Process management","score":0.3629017472267151},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.277591347694397},{"id":"https://openalex.org/keywords/business","display_name":"Business","score":0.23560163378715515},{"id":"https://openalex.org/keywords/computer-security","display_name":"Computer security","score":0.21756958961486816},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.17959770560264587},{"id":"https://openalex.org/keywords/psychology","display_name":"Psychology","score":0.11033022403717041},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.10825669765472412},{"id":"https://openalex.org/keywords/geography","display_name":"Geography","score":0.107453852891922}],"concepts":[{"id":"https://openalex.org/C2780616401","wikidata":"https://www.wikidata.org/wiki/Q1133673","display_name":"Cornerstone","level":2,"score":0.8798816204071045},{"id":"https://openalex.org/C20136886","wikidata":"https://www.wikidata.org/wiki/Q749647","display_name":"Interoperability","level":2,"score":0.8493016958236694},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6093361973762512},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5828961730003357},{"id":"https://openalex.org/C2779356329","wikidata":"https://www.wikidata.org/wiki/Q922625","display_name":"Checklist","level":2,"score":0.52195805311203},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4686402976512909},{"id":"https://openalex.org/C26517878","wikidata":"https://www.wikidata.org/wiki/Q228039","display_name":"Key (lock)","level":2,"score":0.4332427382469177},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.4301440715789795},{"id":"https://openalex.org/C112930515","wikidata":"https://www.wikidata.org/wiki/Q4389547","display_name":"Risk analysis (engineering)","level":1,"score":0.4293312430381775},{"id":"https://openalex.org/C56739046","wikidata":"https://www.wikidata.org/wiki/Q192060","display_name":"Knowledge management","level":1,"score":0.4105612635612488},{"id":"https://openalex.org/C195094911","wikidata":"https://www.wikidata.org/wiki/Q14167904","display_name":"Process management","level":1,"score":0.3629017472267151},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.277591347694397},{"id":"https://openalex.org/C144133560","wikidata":"https://www.wikidata.org/wiki/Q4830453","display_name":"Business","level":0,"score":0.23560163378715515},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.21756958961486816},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.17959770560264587},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.11033022403717041},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10825669765472412},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.107453852891922},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0},{"id":"https://openalex.org/C180747234","wikidata":"https://www.wikidata.org/wiki/Q23373","display_name":"Cognitive psychology","level":1,"score":0.0}],"mesh":[],"locations_count":9,"locations":[{"id":"doi:10.1186/1751-0473-8-21","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1751-0473-8-21","pdf_url":"https://scfbm.biomedcentral.com/counter/pdf/10.1186/1751-0473-8-21","source":{"id":"https://openalex.org/S45786803","display_name":"Source Code for Biology and Medicine","issn_l":"1751-0473","issn":["1751-0473"],"is_oa":false,"is_in_doaj":false,"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":"Source Code for Biology and Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pure.atira.dk:openaire/c8b999c2-ea96-479c-b624-135ff4425b63","is_oa":true,"landing_page_url":"https://research-repository.uwa.edu.au/en/publications/c8b999c2-ea96-479c-b624-135ff4425b63","pdf_url":null,"source":{"id":"https://openalex.org/S4306402523","display_name":"UWA Profiles and Research Repository (University of Western Australia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I177877127","host_organization_name":"The University of Western Australia","host_organization_lineage":["https://openalex.org/I177877127"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bellgard, M, Beroud, C, Parkinson, K, Harris, T, Aym\u00e9, S, Baynam, G, Weeramanthri, T, Dawkins, H & Hunter, A 2013, 'Dispelling myths about rare disease registry system development', Source Code For Biology And Medicine, vol. 8, no. 21, pp. 7pp. https://doi.org/10.1186/1751-0473-8-21","raw_type":"info:eu-repo/semantics/article"},{"id":"pmid:24131574","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24131574","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":"Source code for biology and medicine","raw_type":null},{"id":"pmh:oai:eprints.qut.edu.au:125435","is_oa":true,"landing_page_url":"https://eprints.qut.edu.au/125435/1/dispelling1751-0473-8-21.pdf","pdf_url":"https://eprints.qut.edu.au/125435/1/dispelling1751-0473-8-21.pdf","source":{"id":"https://openalex.org/S4306402607","display_name":"QUT ePrints (Queensland University of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I160993911","host_organization_name":"Queensland University of Technology","host_organization_lineage":["https://openalex.org/I160993911"],"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":"Source Code for Biology and Medicine","raw_type":"Contribution to Journal"},{"id":"pmh:oai:europepmc.org:2993652","is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC4015362","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":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4015362","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4015362","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Source Code Biol Med","raw_type":"Text"},{"id":"pmh:oai:researchrepository.murdoch.edu.au:21190","is_oa":false,"landing_page_url":"http://researchrepository.murdoch.edu.au/id/eprint/21190/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400274","display_name":"Murdoch Research Repository (Murdoch University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I176790772","host_organization_name":"Murdoch University","host_organization_lineage":["https://openalex.org/I176790772"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bellgard, M. <http://researchrepository.murdoch.edu.au/view/author/Bellgard, Matthew.html>, Beroud, C., Parkinson, K., Harris, T., Ayme, S., Baynam, G. <http://researchrepository.murdoch.edu.au/view/author/Baynam, Gareth.html>, Weeramanthri, T., Dawkins, H. and Hunter, A. <http://researchrepository.murdoch.edu.au/view/author/Hunter, Adam.html> (2013) Dispelling myths about rare disease registry system development. Source Code for Biology and Medicine, 8 (1). p. 21.","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:inserm-00877583v1","is_oa":false,"landing_page_url":"https://inserm.hal.science/inserm-00877583","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Source Code for Biology and Medicine, 2013, 8 (1), pp.21. ⟨10.1186/1751-0473-8-21⟩","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:espace.curtin.edu.au:20.500.11937/35768","is_oa":false,"landing_page_url":"http://hdl.handle.net/20.500.11937/35768","pdf_url":null,"source":{"id":"https://openalex.org/S4306401790","display_name":"eSpace (Curtin University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205640436","host_organization_name":"Curtin University","host_organization_lineage":["https://openalex.org/I205640436"],"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":"Journal Article"}],"best_oa_location":{"id":"doi:10.1186/1751-0473-8-21","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1751-0473-8-21","pdf_url":"https://scfbm.biomedcentral.com/counter/pdf/10.1186/1751-0473-8-21","source":{"id":"https://openalex.org/S45786803","display_name":"Source Code for Biology and Medicine","issn_l":"1751-0473","issn":["1751-0473"],"is_oa":false,"is_in_doaj":false,"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":"Source Code for Biology and Medicine","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2162935122.pdf","grobid_xml":"https://content.openalex.org/works/W2162935122.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W39883492","https://openalex.org/W154228082","https://openalex.org/W1494065016","https://openalex.org/W1966340852","https://openalex.org/W1966909822","https://openalex.org/W1990084717","https://openalex.org/W2001353893","https://openalex.org/W2025741240","https://openalex.org/W2047895996","https://openalex.org/W2073010854","https://openalex.org/W2082962424","https://openalex.org/W2094392626","https://openalex.org/W2105498140","https://openalex.org/W2129880493","https://openalex.org/W2132123037","https://openalex.org/W2137027832","https://openalex.org/W2138193360","https://openalex.org/W2144325013","https://openalex.org/W2400968868"],"related_works":["https://openalex.org/W2088111589","https://openalex.org/W2321083758","https://openalex.org/W4366496304","https://openalex.org/W4229004718","https://openalex.org/W2375906709","https://openalex.org/W2350669386","https://openalex.org/W2348913748","https://openalex.org/W2381386433","https://openalex.org/W2045980693","https://openalex.org/W175865013"],"abstract_inverted_index":{"Rare":[0,68],"disease":[1,22,94,129],"registries":[2,40],"(RDRs)":[3],"are":[4],"an":[5,90],"essential":[6],"tool":[7],"to":[8,84,99,121,136,153,156,187],"improve":[9],"knowledge":[10],"and":[11,21,35,54,57,75,86,131,158,175,179],"monitor":[12],"interventions":[13],"for":[14,32,101,173],"rare":[15,93],"diseases.":[16],"If":[17],"designed":[18,80],"appropriately,":[19],"patient":[20],"related":[23],"information":[24,139],"captured":[25],"within":[26],"them":[27],"can":[28],"become":[29],"the":[30,62,66,82,134,151,181],"cornerstone":[31],"effective":[33],"diagnosis":[34],"new":[36],"therapies.":[37],"Surprisingly":[38],"however,":[39],"possess":[41],"a":[42,122,163,184],"diverse":[43],"range":[44],"of":[45,65,124,165,183],"functionality,":[46],"operate":[47],"in":[48,89,104,119,142,167],"different,":[49],"often-times":[50],"incompatible,":[51],"software":[52],"environments":[53],"serve":[55],"various,":[56],"sometimes":[58],"incongruous,":[59],"purposes.":[60],"Given":[61],"ambitious":[63],"goals":[64],"International":[67],"Diseases":[69],"Research":[70],"Consortium":[71],"(IRDiRC)":[72],"by":[73],"2020":[74],"beyond,":[76],"RDRs":[77],"must":[78],"be":[79],"with":[81],"agility":[83],"evolve":[85,118],"efficiently":[87],"interoperate":[88],"ever":[91],"changing":[92,128],"landscape,":[95],"as":[96,98,127,148,150],"well":[97,149],"cater":[100],"rapid":[102],"changes":[103],"Information":[105],"Communication":[106],"Technologies.":[107],"In":[108],"this":[109],"paper,":[110],"we":[111],"contend":[112],"that":[113],"RDR":[114,168,177,185,190],"requirements":[115],"will":[116],"also":[117],"response":[120],"number":[123,164],"factors":[125],"such":[126],"definitions":[130],"diagnostic":[132],"criteria,":[133],"requirement":[135],"integrate":[137],"patient/disease":[138],"from":[140],"advances":[141],"either":[143],"biotechnology":[144],"and/or":[145],"phenotypying":[146],"approaches,":[147],"need":[152],"adapt":[154],"dynamically":[155],"security":[157],"privacy":[159],"concerns.":[160],"We":[161],"dispel":[162],"myths":[166],"development,":[169],"outline":[170],"key":[171],"criteria":[172],"robust":[174],"sustainable":[176],"implementation":[178],"introduce":[180],"concept":[182],"Checklist":[186],"guide":[188],"future":[189],"development.":[191]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":17},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":17},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":7}],"updated_date":"2026-08-18T07:49:30.821534","created_date":"2025-10-10T00:00:00"}