Michele Filosi

Beyond the classical plasma secretome: genetic architecture and disease associations of the expanded human plasma proteome in 13,445 Europeans

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

Taxonize-gb: A tool for filtering GenBank non-redundant databases based on taxonomy

Taxonize-gb filters GenBank databases based on taxonomy to create tailored reference databases for metagenomic analysis.

Performing highly parallelized and reproducible GWAS analysis on biobank-scale data

The paper presents a Nextflow pipeline for scalable and reproducible GWAS analysis on large biobank datasets, validated against published datasets and tested on HPC and cloud infrastructures.

Population-level variation of enhancer expression identifies novel disease mechanisms in the human brain

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

Functional annotation of rare structural variation in the human brain

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

Transcriptome analysis of the zebrafish atoh7-/- mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases

The paper analyzes transcriptomes of zebrafish atoh7 mutant embryos to identify Atoh7-dependent genetic networks linked to retinal development and human eye diseases.

The Italian Autism Network (ITAN): A Resource for Molecular Genetics and Biomarker Investigations

The Italian Autism Network (ITAN) collects biological samples and clinical data from ASD patients and families to support genetic and biomarker research.