Fábio C. P. Navarro

The paper introduces the EN-TEx resource, which provides personal epigenomes and variant-impact models across multiple tissues, revealing allele-specific loci and their associations with GWAS loci.

This study compares mock IP and DNA input controls in ChIP-seq, showing that mock IP better removes spurious sites, while DNA input has unique advantages, and proposes combining both for improved binding site detection.

FANCY estimates privacy risk in functional genomics data by predicting leaking variants from sequencing reads without explicit genotyping.

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

The paper introduces TeXP, a method to distinguish pervasive transcription from autonomous LINE-1 activity, revealing LINE-1 activity in many healthy somatic cells and its correlation with cell turnover.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

The paper compares genome assemblies of Mus caroli and Mus pahari with Mus musculus and Rattus norvegicus to reveal lineage-specific evolutionary mechanisms, particularly repeat-associated processes.

The paper presents full-length de novo genome assemblies for 16 inbred mouse strains, identifying strain-specific haplotypes and novel functional loci, including a large unannotated gene with potential developmental roles.