William Sproviero

The impact of Short Tandem Repeats on grey matter brain imaging derived phenotypes in UK Biobank

This study identifies 262 STRs significantly associated with MRI-derived grey matter volumes in UK Biobank participants, with 12 associations replicated and no nearby SNPs in linkage disequilibrium.

Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3'UTR in Amyotrophic Lateral Sclerosis

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.

DNAscan: a fast, computationally and memory efficient bioinformatics pipeline for the analysis of DNA next-generation-sequencing data

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: a pipeline for the analysis and interpretation of DNA NGS data of ALS patients

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: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

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

Detection of long repeat expansions from PCR-free whole-genome sequence data

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.