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

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 ...

Source: Genome Biology - January 31, 2024 Category: Genetics & Stem Cells Authors: 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 Z üchner and Vanessa Aguiar-Pulido Tags: Method Source Type: research