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

Abstract 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...

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Autori principali: Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2024-01-01
Serie:Genome Biology
Soggetti:
Repeat expansions
Machine learning
Rare diseases
Accesso online:https://doi.org/10.1186/s13059-024-03171-4
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