Rafael L. V. Mercuri

This paper presents the first fully phased, diploid, telomere-to-telomere genome of the zebra finch, revealing new genes and structural features.

This paper shows that olaparib treatment increases transposable element activity in BRCA1-deficient triple-negative breast cancer cells, leading to genomic instability and immune responses.

TEscape uses long-read sequencing to comprehensively annotate the human transposable element transcriptome, identifying over 83,000 previously unannotated isoforms.

The paper shows processed pseudogenes are dynamic evolutionary elements, not inert, and links their abundance to life-history traits and cancer-related dynamics across vertebrates.

This study presents chromosome-level genomes for sloths and anteaters, revealing retrocopy formation and domestication as key drivers of xenarthran genome evolution and physiological specializations.

RCPedia provides a comprehensive database of retrocopies across 44 species, offering genomic annotations, expression data, and query tools for genomic and evolutionary research.

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

This study identifies 17 retroduplicated miRNAs (retro-miRs) originating from mRNA retrocopies, showing they are primate-specific, expressed, and involved in cancer.

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

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.