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

"additionally our 120 positive controls dataset (egad00001003562) is available through the european genome-phenome archive [ 35 ]. the scripts to run rexprt for any tr of interest as well as the rexprt scores for the reference trs are available on zenodo [ 36 ] as well as on github at the following url: https://github com/zuchnerlab/rexprt [ 37 ] rexprt is provided under the terms and conditions of the mit open-source license."

"the scripts to run rexprt for any tr of interest as well as the rexprt scores for the reference trs are available on zenodo [ 36 ] as well as on github at the following url: https://github com/zuchnerlab/rexprt [ 37 ] rexprt is provided under the terms and conditions of the mit open-source license."

"Declarations Ethics approval and consent to participateAll participants consented for enrollment into the Undiagnosed Diseases Network. Competing interestsE.D. contributed to this work while he was an employee of Illumina, Inc., a public company that develops and markets systems for genetic analysis. The rest of the authors declare that they have no competing interests. Competing interests E.D. contributed to this work while he was an employee of Illumina, Inc., a public company that develops and markets systems for genetic analysis. The rest of the authors declare that they have no competing interests."

"Funding This work was supported by the American Heart Association predoctoral fellowship awarded to S.F (#917392), the National Institute of Health in grants #2R01NS072248 and #3R01NS072248 to S.Z. and the Muscular Dystrophy Association."