Guilherme De Sena Brandine

Owl quantifies microsatellite instability from long-read data, identifying MSI-high genomes and motif-specific patterns in cancer samples.

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 introduces a computational model to quantify tandem repeat instability using long-read sequencing data and applies it to identify unstable alleles in 256 HPRC cell lines.

This study shows CCG interruptions in DM1 are unstable and hypermethylated, contributing to CTG repeat stabilization.

The paper introduces a new TR catalog, TRExplorer v1.0, containing 4.86 million loci, designed for both short-read and long-read analyses and includes variation clusters identified using long-read HiFi data.

The paper examines age-related changes in the human sperm methylome, finding that donor variability outweighs age effects, but age-dependent changes exist and vary by genomic location.

The paper introduces TRGT, a tool for tandem repeat genotyping, and a database of 937,122 TRs across 100 genomes, achieving high concordance and detecting repeat expansions, methylation, and mosaicism.

The paper identifies PRC2 low-methylated regions as a universal biomarker of aging and rejuvenation, showing they account for most age-related DNA methylation gain across tissues.

The paper introduces a new bisulfite sequencing read mapping algorithm that uses a two-letter DNA encoding to improve speed and memory efficiency while maintaining accuracy.