Article

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

2023-06-13

Abstract excerpt

<title>Abstract</title> <p>Rare diseases (RD) have a prevalence of not more than 1/2000 in the European population, and are characterised by the difficulty of 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...

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Literature Corpus work: 47ac365e-1b48-559c-9306-3d7b4e470d7e
DOI: 10.21203/rs.3.rs-2948814/v1

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