Publications by authors named "C Howald"
Article Synopsis
- The study investigates the effects of reducing genomic sequencing on SARS-CoV-2 surveillance outcomes in Switzerland, analyzing over 143,000 sequences.
- Results show that while some key outcomes like variant detection and cluster analysis could still be achieved with only 35% of the original sequencing effort, this reduction varies significantly by viral lineage.
- The research highlights the need for genomic surveillance programs to balance cost and public health benefits, emphasizing that reduced sequencing may compromise accuracy in tracking emerging variants of concern.
Article Synopsis
- The study examines genetic regulation of mRNA, proteins, and metabolites in blood samples from over 3,000 people, revealing that many genetic variants influence multiple molecular traits.* -
- It finds that there's a strong genetic connection between gene expression and protein levels (66.6%), and shows broad connections across various tissues, highlighting the shared genetic basis for different traits.* -
- By creating networks of known genetic variants, the research indicates that these variants are more frequently linked to gene expression rather than other molecular traits, helping to clarify the mechanisms behind genetic associations.*
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-layered omics profiling combined with biochemical and clinical features of individuals with MMA to reveal a molecular diagnosis for 177 out of 210 (84%) cases, the majority (148) of whom display pathogenic variants in methylmalonyl-CoA mutase (MMUT). Stratification of these data layers by disease severity shows dysregulation of the tricarboxylic acid cycle and its replenishment (anaplerosis) by glutamine.
View Article and Find Full Text PDFMost signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, key tissues and cell-types required for functional inference are absent from large-scale resources. Here we explore the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic traits, and human pancreatic islet transcription using data from 420 donors.
View Article and Find Full Text PDFObjectives: Systemic lupus erythematosus (SLE) diagnosis and treatment remain empirical and the molecular basis for its heterogeneity elusive. We explored the genomic basis for disease susceptibility and severity.
Methods: mRNA sequencing and genotyping in blood from 142 patients with SLE and 58 healthy volunteers.