{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T06:26:50Z","timestamp":1773124010884,"version":"3.50.1"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T00:00:00Z","timestamp":1612396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Alkaptonuria (AKU, OMIM: 203500) is an autosomal recessive disorder caused by mutations in the Homogentisate 1,2-dioxygenase (HGD) gene. A lack of standardized data, information and methodologies to assess disease severity and progression represents a common complication in ultra-rare disorders like AKU. This is the reason why we developed a comprehensive tool, called ApreciseKUre, able to collect AKU patients deriving data, to analyse the complex network among genotypic and phenotypic information and to get new insight in such multi-systemic disease. By taking advantage of the dataset, containing the highest number of AKU patient ever considered, it is possible to apply more sophisticated computational methods (such as machine learning) to achieve a first AKU patient stratification based on phenotypic and genotypic data in a typical precision medicine perspective. Thanks to our sufficiently populated and organized dataset, it is possible, for the first time, to extensively explore the phenotype\u2013genotype relationships unknown so far. This proof of principle study for rare diseases confirms the importance of a dedicated database, allowing data management and analysis and can be used to tailor treatments for every patient in a more effective way.<\/jats:p>","DOI":"10.1093\/bib\/bbaa434","type":"journal-article","created":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T12:18:00Z","timestamp":1609157880000},"source":"Crossref","is-referenced-by-count":24,"title":["Machine learning application for patient stratification and phenotype\/genotype investigation in a rare disease"],"prefix":"10.1093","volume":"22","author":[{"given":"Ottavia","family":"Spiga","sequence":"first","affiliation":[{"name":"Department of Biotechnology, Chemistry and Pharmacy, University of Siena, ITALY"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8329-1565","authenticated-orcid":false,"given":"Vittoria","family":"Cicaloni","sequence":"additional","affiliation":[{"name":"Toscana Life Sciences Foundation, Siena, ITALY"}]},{"given":"Giovanna Maria","family":"Dimitri","sequence":"additional","affiliation":[{"name":"Department of Computer Science, University of Cambridge, Cambridge, UK"},{"name":"Department of Information Engineering and Mathematics, University of Siena, ITALY"}]},{"given":"Francesco","family":"Pettini","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, University of Siena, ITALY"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9657-4169","authenticated-orcid":false,"given":"Daniela","family":"Braconi","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Chemistry and Pharmacy, University of Siena, ITALY"}]},{"given":"Andrea","family":"Bernini","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Chemistry and Pharmacy, University of Siena, ITALY"}]},{"given":"Annalisa","family":"Santucci","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 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