Isaac R. L. Xu

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.

The paper analyzes pentanucleotide tandem repeats in human genomes using long-read sequencing, revealing extensive variability and evolutionary origins.

The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

The paper tests SIPA1L2 as a modifier of CMT1A using mouse models and identifies some genetic interactions but finds a small overall effect on neuropathy.

RExPRT predicts pathogenicity of tandem repeat expansions with high precision, identifying ~30,000 likely pathogenic TRs in the reference genome.

This study uses GAN to generate high-quality synthetic prostate cancer MRI images, showing that even inexperienced users can misidentify them as real.