Johannes Schumacher

AlphaVaR structures AlphaGenome's per-track variant scores in R and adds multiple-testing-corrected enrichment and shift tests, a tissue-specificity index and transparent ranking; on rs1427407 it recovers BCL11A erythroid-enhancer biology.

This paper identifies 58 genome-wide significant loci for major anxiety disorders using a large meta-analysis and highlights GABAergic signaling as a potential mechanism.

The paper uses single cell RNA-sequencing and genome-wide association study data to identify cell types and processes involved in Barrett's esophagus and esophageal adenocarcinoma risk.

The paper analyzes gene interaction networks across polygenic traits, finding higher connectivity in trait-associated genes and weaker selective constraints in highly connected networks, and develops an online portal for hypothesis generation.

This study uses Mendelian randomisation to identify causal risk factors for eight cancers, finding both well-established and novel molecular factors.

This study identifies a risk variant for autoimmune disease that acts as a trans-eQTL regulating IRF1 under immune stimulation, demonstrating its causal role and mechanism.

The paper conducts a GWAS to identify genetic variants associated with a cognitive predictor of dyslexia, finding significant associations with variants near MIR924HG and NKAIN3.

The paper identifies response eQTLs that modify genetic regulation during immune activation and shows their enrichment in autoimmune disease GWAS signals.