Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare

Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an assessment suggests a considerably larger number. The m...

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Bibliographic Details
Main Authors: C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey
Format: Article
Language:English
Published: Elsevier 2022-08-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004222009701