RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Sarah Fazal, Matt Christopher Danzi, Isaac R. L. Xu, Shilpa N. Kobren, Shamil R. Sunyaev, Chloe M. Reuter, Shruti Marwaha, Matthew Thomas Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan L. Zuchner, Vanessa Aguiar‐Pulido
RExPRT predicts pathogenicity of tandem repeat expansions with high precision, identifying ~30,000 likely pathogenic TRs in the reference genome.
Genome biology · Jan 31, 2024Peer-reviewedBioinformatics