Cédric Howald

This study compares genotyping arrays and low-pass whole-genome sequencing for pharmacogenetic variant and phenotype inference, finding high concordance but improved variant coverage with LP-WGS.

The paper integrates multi-omics data from pediatric sepsis patients to identify a reproducible inflammatory host-response axis associated with disease severity.

This paper evaluates the Ultima Genomics UG 100 sequencing platform's ability to identify short variants, particularly in long homopolymer regions, compared to Illumina NovaSeq 6000 for clinical use.

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

The paper investigates how genetic variants affect gene expression in human pancreatic islets and identifies candidate genes linked to type 2 diabetes.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

This study identifies distinct susceptibility and activity/severity signatures in SLE using transcriptomics and genetics, enabling improved diagnosis and personalized therapy.