Remo Monti

The paper identifies gene dosage effects on telomere maintenance and disease pathways in neuroblastoma using genomic and transcriptomic data from 115 tumors.

This paper applies TransferGWAS to UK Biobank brain MRI data using deep features, identifying 289 loci and novel genetic correlations with traits like bone density and type 2 diabetes.

This study evaluates polygenic scoring methods across five biobanks and finds that biobank differences outweigh method differences, with ensemble learning improving performance.

HAPNEST generates and evaluates large-scale synthetic genotype and phenotype datasets for polygenic risk score analysis.

The paper performs a rare variant association study of 30 blood biomarkers in 191,971 UK Biobank individuals, identifying 193 gene-biomarker associations using functionally informed kernel-based tests.

Janggu is a Python library that simplifies deep learning in genomics by providing reusable data tools and model evaluation features, improving performance through high-order sequence features.