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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Hlavní autoři: C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey
Médium: Článek
Jazyk:English
Vydáno: Elsevier 2022-08-01
Edice:iScience
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On-line přístup:http://www.sciencedirect.com/science/article/pii/S2589004222009701