Thiago L. A. Miller

FREDDIE detects exonization of retrotransposable elements in RNA-seq data, identifying chimeric transcripts in cancer cell lines and glioblastoma samples.

Sandy generates synthetic NGS reads to help design and optimize sequencing assays by simulating various data features and answering key analytical questions.

The paper identifies mutational signatures and retrotransposon insertions in XP-V skin tumors, linking them to UV exposure and tobacco use, and suggests immunotherapy potential.

This study presents a high-coverage whole-genome sequencing dataset of 1,171 admixed elderly Brazilians, identifying novel variants and demonstrating the utility of WGS for genomic and clinical research in underrepresented populations.

sideRETRO identifies and genotypes somatic and dimorphic retroCNVs from whole-genome or whole-exome sequencing data with high accuracy.