Article

A systematic review on machine learning approaches in the diagnosis of rare genetic diseases

2023-01-31

Abstract excerpt

<h4>Background</h4> The diagnosis of rare genetic diseases is often challenging due to the complexity of the genetic underpinnings of these conditions and the limited availability of diagnostic tools. Machine learning (ML) algorithms have the potential to improve the accuracy and speed of diagnosis by analyzing large amounts of genomic data and identifying complex multiallelic patterns that may be associated with...

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Literature Corpus work: ea8268d5-5d8d-521b-84d9-9d2becdf5ded
DOI: 10.1101/2023.01.30.23285203

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