Browsing by Subject "rare diseases"
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Enhancing Rare Disease Research with Semantic Integration of Environmental and Health Data
(ACM, 2021)Knowledge Graph (KG) approaches are increasingly being used for data integration processes to combine clinical data with other data sources. Health Data Researchers (HDR) could benefit from these technologies since they ... -
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders:A Review of the Literature
(2020)Copy number variants (CNVs) play an important role in the genetic underpinnings of neuropsychiatric/neurodevelopmental disorders. The chromosomal region 16p11.2 (BP4–BP5) harbours both deletions and duplications that are ... -
Rett syndrome in Ireland: a demographic study.
(2024)Background: Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals ... -
Towards A Rare Disease Registry Standard: Semantic Mapping of Common Data Elements Between FAIRVASC and the European Joint Programme for Rare Disease
(2022)This paper describes the extension of the FAIRVASC rare disease ontology, with Joint Research Council Common Data Elements (CDE), and mapping to the European Joint Programme on Rare Dis- eases (EJP RD) CDE ontology. We ...