Pedro A. F. Galante

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.

The Vertebrate Genomes Project Phase I provides high-quality reference genomes for 816 species, enabling evolutionary and conservation insights 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.

This study examines transcriptomic entropy in aging and cancer, finding tissue-specific entropy changes and its association with cancer progression and survival outcomes.

The paper identifies SERBP1 as a protein involved in PARylation-dependent complexes that regulate splicing, cell division, and ribosome biogenesis, with implications for neurodegenerative diseases.

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.

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.

The paper uses molecular dynamics simulations and SPR assays to analyze how SARS-CoV-2 variants bind to the ACE2 receptor and how this affects viral spread.

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.

piRNAdb is a database that catalogs piRNAs, their targets, and associated gene ontology terms, providing a user-friendly interface for piRNA research.

Reboot identifies genes and splicing isoforms linked to cancer patient prognosis using penalized Cox regression and bootstrap methods, validated on glioblastoma and pancreatic adenocarcinoma datasets.

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

This study shows that Ric-8B hypomorphism reduces mTORC2 activity in mice, leading to embryonic defects and impaired GPCR/G protein signaling.