The use of machine learning in rare diseases: a scoping review.

ABSTRACT:

Background

Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that investigate, from a general perspective, how machine learning is used in a rare disease context. This scoping review aims to address this gap and explores the use of machine learning in rare diseases, investigating, for example, in which rare diseases machine learning is applied, which types of algorithms and input data are used or which medical applications (e.g., diagnosis, prognosis or treatment) are studied.

Methods

Using a complex search string including generic search terms and 381 individual disease names, studies from the past 10 years (2010-2019) that

SUBMITTER: Schaefer J 

PROVIDER: S-EPMC7285453 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature