Article

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

2023-03-23

Abstract excerpt

Tandem repeats (TRs) are polymorphic sequences of DNA that are composed of repeating units of motifs, whose lengths can vary depending on the type of TR. Expansions of TRs are responsible for approximately 50 monogenic diseases, compared to over 4,300 disease causing genes disrupted by single nucleotide variants and small indels. It appears thus reasonable to expect the discovery of additional pathogenic repeat ex...

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Literature Corpus work: 3b4a23de-d44e-5efd-9562-fc794a021bfd
DOI: 10.1101/2023.03.22.533484

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