{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:17:26Z","timestamp":1789845446595,"version":"4.0.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"New Colombo Plan, Department of Trade and Foreign Affairs, Australia"},{"DOI":"10.13039\/501100001349","name":"National Medical Research Council,Singapore","doi-asserted-by":"crossref","award":["NMRC\/CSAINV21jun-0003"],"award-info":[{"award-number":["NMRC\/CSAINV21jun-0003"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100004339","name":"Sanofi-Aventis","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Rare genetic diseases affect 5\u20138% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data analysis in the form of visualisation and statistical testing, was performed on a database containing deidentified health records of 1.28 million patients across 3 major hospitals in Singapore, in a bid to improve the diagnostic process for patients who are living with an undiagnosed rare disease, specifically focusing on Fabry Disease and Familial Hypercholesterolaemia (FH). On a baseline of 4 patients, we identified 2 additional patients with potential diagnosis of Fabry disease, suggesting a potential 50% increase in diagnosis. Similarly, we identified\u2009&gt;\u200912,000 individuals who fulfil the clinical and laboratory criteria for FH but had not been diagnosed previously. This proof-of-concept study showed that it is possible to perform mining on EHR data albeit with some challenges and limitations.<\/jats:p>","DOI":"10.1038\/s41598-024-55424-8","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T22:02:12Z","timestamp":1709244132000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases"],"prefix":"10.1038","volume":"14","author":[{"given":"Daniel","family":"Moynihan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Monaco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teck Wah","family":"Ting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaavya","family":"Narasimhalu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Kam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiin Ying","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weng Khong","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Davila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasmin","family":"Bylstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iswaree Devi","family":"Balakrishnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Heng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elian","family":"Chia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khung Keong","family":"Yeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bee Keow","family":"Goh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritu","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tele","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saumya Shekhar","family":"Jamuar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,1]]},"reference":[{"key":"55424_CR1","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/S1474-4422(11)70001-1","volume":"10","author":"N The Lancet","year":"2011","unstructured":"The Lancet, N. Rare neurological diseases: A united approach is needed. Lancet Neurol. 10, 109. https:\/\/doi.org\/10.1016\/S1474-4422(11)70001-1 (2011).","journal-title":"Lancet Neurol."},{"key":"55424_CR2","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1002\/ajmg.a.61124","volume":"179","author":"CR Ferreira","year":"2019","unstructured":"Ferreira, C. R. The burden of rare diseases. Am. J. Med. Genet. A 179, 885\u2013892. https:\/\/doi.org\/10.1002\/ajmg.a.61124 (2019).","journal-title":"Am. J. Med. Genet. A"},{"key":"55424_CR3","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1186\/s13023-022-02358-x","volume":"17","author":"A Bauskis","year":"2022","unstructured":"Bauskis, A., Strange, C., Molster, C. & Fisher, C. The diagnostic odyssey: Insights from parents of children living with an undiagnosed condition. Orphanet. J. Rare Dis. 17, 233. https:\/\/doi.org\/10.1186\/s13023-022-02358-x (2022).","journal-title":"Orphanet. J. Rare Dis."},{"key":"55424_CR4","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain, D. P. Fabry disease. Orphanet. J. Rare Dis. 5, 30. https:\/\/doi.org\/10.1186\/1750-1172-5-30 (2010).","journal-title":"Orphanet. J. Rare Dis."},{"key":"55424_CR5","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","volume":"30","author":"CM Eng","year":"2007","unstructured":"Eng, C. M. et al. Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J. Inherit. Metab. Dis. 30, 184\u2013192. https:\/\/doi.org\/10.1007\/s10545-007-0521-2 (2007).","journal-title":"J. Inherit. Metab. Dis."},{"key":"55424_CR6","volume-title":"GeneReviews\u00ae","author":"HE Ison","year":"1993","unstructured":"Ison, H. E., Clarke, S. L. & Knowles, J. W. Familial Hypercholesterolemia. In GeneReviews\u00ae (eds Adam, M. P. et al.) (University of Washington, Seattle, Seattle (WA), 1993)."},{"key":"55424_CR7","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1093\/eurjpc\/zwab224","volume":"29","author":"AI Kramer","year":"2022","unstructured":"Kramer, A. I. et al. Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: A systematic review and meta-analysis. Eur. J. Prev. Cardiol. 29, 817\u2013828. https:\/\/doi.org\/10.1093\/eurjpc\/zwab224 (2022).","journal-title":"Eur. J. Prev. Cardiol."},{"key":"55424_CR8","doi-asserted-by":"publisher","first-page":"320","DOI":"10.3414\/ME10-01-0038","volume":"49","author":"A Hoerbst","year":"2010","unstructured":"Hoerbst, A. & Ammenwerth, E. Electronic health records. A systematic review on quality requirements. Methods Inf. Med. 49, 320\u2013336. https:\/\/doi.org\/10.3414\/ME10-01-0038 (2010).","journal-title":"Methods Inf. 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Data mining: Traditional spring festival associated with hypercholesterolemia. BMC Cardiovasc. Disord. 21, 526. https:\/\/doi.org\/10.1186\/s12872-021-02328-4 (2021).","journal-title":"BMC Cardiovasc. Disord."},{"key":"55424_CR12","doi-asserted-by":"publisher","first-page":"7341841","DOI":"10.1155\/2019\/7341841","volume":"2019","author":"L Dornan","year":"2019","unstructured":"Dornan, L. et al. Utilisation of electronic health records for public health in asia: A review of success factors and potential challenges. Biomed. Res. Int. 2019, 7341841. https:\/\/doi.org\/10.1155\/2019\/7341841 (2019).","journal-title":"Biomed. Res. Int."},{"key":"55424_CR13","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1590\/2175-8239-JBN-2021-0208","volume":"44","author":"CAB Silva","year":"2022","unstructured":"Silva, C. A. B., Andrade, L. G. M., Vaisbich, M. H. & Barreto, F. C. 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DM worked as an intern at Health Catalyst. All other authors have no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"5056"}}