Akshay Kumar Avvaru

This paper benchmarks 7 TR genotyping tools using Nanopore long-read data, finding that no single tool is best across all metrics, and that sequence-level accuracy is crucial for clinical and population studies.

This study identifies genomic factors influencing tandem repeat mutagenesis using long-read sequencing in a large family, finding that de novo mutations are more common at longer, uninterrupted, and heterozygous loci.

The paper analyzes mutations in colon crypts to determine if colibactin is linked to early-onset CRC, finding that its association reflects anatomy rather than oncogenesis.

This study uses long-read sequencing to reveal extensive somatic mosaicism in FMR1 repeats and methylation in FXTAS brain tissue, identifying expansions and contractions beyond traditional methods' resolution.

ATaRVa improves TR genotyping accuracy and efficiency using long-read sequencing, excels in low coverage datasets, and includes motif decomposition and methylation profiling.

STRchive provides a dynamic resource for interpreting TR variants at disease loci, showing most TR diseases affect children and pathogenic genotypes exist in gnomAD without known disease prevalence.

Ribbit identifies and annotates complex tandem repeat sequences in genomes with high accuracy and efficiency, outperforming existing tools in runtime and precision.

DiviSSR uses a mathematical property of 2-bit DNA representations to quickly and accurately identify tandem repeats in genomic data.

This study identifies and analyzes microsatellites across 719 eukaryotes, revealing evolutionary trends and species-specific patterns that reflect biological complexity.