This study uses GWAS and functional genomics to identify ALS risk genes, repurpose drugs, and improve risk prediction using polytranscriptomic scores.

25 citationstop 3%

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsbioRxivPreprintJun 29, 2020

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

Janel O. Johnson, Ruth Chia, Danny E. Miller…·Bryan J. Traynor

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

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

BioinformaticsBMC BioinformaticsPeer-reviewedApr 27, 2019

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

Alfredo Iacoangeli, Ahmad Al Khleifat, William Sproviero…·Ammar Al‐Chalabi

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.

27 citations

whole-genome sequencingexperimental assay

𝕏 PostBluesky

BioinformaticsGenome ResearchPeer-reviewedNov 1, 2017

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

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw…·Michael A. Eberle

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.

388 citations

humanwhole-genome sequencing

𝕏 PostBluesky