RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.
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ABSTRACT:
SUBMITTER: Fazal S
PROVIDER: S-EPMC10832122 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Publications
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.
Fazal Sarah S Danzi Matt C MC Xu Isaac I Kobren Shilpa Nadimpalli SN Sunyaev Shamil S Reuter Chloe C Marwaha Shruti S Wheeler Matthew M Dolzhenko Egor E Lucas Francesca F Wuchty Stefan S Tekin Mustafa M Züchner Stephan S Aguiar-Pulido Vanessa V
Genome biology 20240131 1
Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions will narrow the diagnostic gap in many diseases. A growing number of TR expansions are being identified, and interpreting them is a challenge. We present RExPRT (Repeat EXpansion Pathogenicity pRediction Tool), a machine learning tool for distinguishing pathogenic from benign TR expansions. Our results demonstrate that an ensemble approach classifi ...[more]
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