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...

Полное описание

Библиографические подробности
Главные авторы: C. I. Edvard Smith, Peter Bergman, Daniel W. Hagey
Формат: Статья
Язык:English
Опубликовано: Elsevier 2022-08-01
Серии:iScience
Предметы:
Online-ссылка:http://www.sciencedirect.com/science/article/pii/S2589004222009701