Alfredo Iacoangeli

This paper introduces a method to estimate penetrance for autosomal dominant traits using population data and family history, validated through simulations and case studies.

This study identifies NEFH tail domain mutations as risk factors for ALS through meta-analysis and variant burden analysis in case-control studies and whole-genome sequencing data.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

DNAscan2 is a versatile, scalable, and user-friendly NGS analysis pipeline that supports variant detection and end-to-end data processing.

RetroSnake detects HERVs in NGS data using an end-to-end pipeline validated by wet-lab experiments, producing annotated insertions in an interactive HTML file.

The paper identifies genetic variants influencing DNA methylation in blood and shows their associations with complex traits and diseases, but finds limited direct causality.

The paper identifies non-coding variants in the IL18RAP 3'UTR that reduce ALS risk by modulating neuro-inflammation through NF-κB signaling in microglia.

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

DNAscan is a fast and memory-efficient pipeline for analyzing DNA NGS data, capable of detecting SNVs, indels, SVs, and other variants with minimal computational resources.

ALSgeneScanner is a tool that provides automated, detailed reports on ALS-related gene variants from whole genome or exome sequencing data, aiding non-specialists in interpretation.

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.