Graziano Pesole

This study identifies PTBP1's role in human neural stem cell fate by showing it can be transferred between cells via tunneling nanotubes and extracellular vesicles, affecting proliferation and differentiation.

This study identifies a family of lncRNAs, including FRG2A, whose overexpression in FSHD patients disrupts nucleolar architecture and reduces protein synthesis, linking FSHD to muscle wasting.

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.

This study compares fecal and colonic lavage samples to assess their ability to represent the human gut microbiome, finding that colonic lavage reveals higher biodiversity and detects mucosa-associated microbes.

The paper evaluates DNA metabarcoding's effectiveness in monitoring biodiversity changes during the EXPO2015 mega-event using air and water samples.

This study uses unsupervised clustering of SARS-CoV-2 genomic sequences to reveal hidden genetic diversity and proposes an automated framework for improved genomic surveillance.

VINYL prioritizes genetic variants using survival analysis, showing higher accuracy and sensitivity than existing methods in clinical studies.

HPC-REDItools improves RNA-editing analysis by enabling faster processing of large datasets using MPI-based parallel computing.

The paper investigates A-to-I RNA editing in SARS-COV-2 using RNAseq data and transcriptome data, finding that A-to-G changes represent genuine RNA editing events mediated by ADAR1.

This study introduces a classification system for SARS-CoV-2 genomes, identifies 12 clusters and 4 super-clusters, and estimates the virus's emergence as early as 2019.

Laniakea provides a cloud-based platform to deploy Galaxy instances on-demand across heterogeneous infrastructures, enabling customizable and scalable bioinformatics workflows.

The paper analyzes SARS-CoV-2 genome sequences to determine if geographic clades show distinct evolutionary patterns, finding no evidence of adaptive evolution in protein-coding genes.