Sergi Beltran

Jan 15, 2025 | mdpi.com | Andreas Hentschel |Malte Tiburcy |Sergi Beltran |Marc Pauper

All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.

Nov 5, 2023 | nature.com | Kornelia Ellwanger |Peter Robinson |Holm Graessner |Sergi Beltran |David Lagorce |Caterina Lucano

AbstractRare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% of RD have a genetic origin although 35% of them do not yet have an identified causative gene. A significant proportion of patients suspected to have a genetic RD receive an inconclusive exome/genome sequencing.