Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.

Aims: To assess the utility of reanalysing GCK variants of uncertain significance (VUS) as an intervention to improve the detection of monogenic diabetes.

Methods: We examined GCK VUS in a local cohort of individuals with suspected monogenic diabetes and re-curated each variant against the recent ClinGen GCK-specific variant classification guidelines.

Results: Variant reanalysis achieved a new 'likely pathogenic' classification (i.

3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity.

The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts for childhood obesity revealed 19 independent signals for the trait; however, the mechanism of action of these loci remains to be elucidated. To molecularly characterize these childhood obesity loci, we sought to determine the underlying causal variants and the corresponding effector genes within diverse cellular contexts.

Health Disparities in Rheumatology in the United States.

Objective: Underserved populations are often at risk of experiencing systematic healthcare disparities. Existing disparities in care access, quality of care received, and treatment outcomes among patients with rheumatic disease are not well understood.

Methods: We conducted a targeted literature review to understand disparities in health outcomes, treatment patterns, and healthcare management faced by rheumatology patients in the United States, with a focus on rheumatoid arthritis (RA), psoriatic arthritis (PsA), and ankylosing spondylitis (AS).

Cost-effectiveness of metacognitive therapy for cardiac rehabilitation participants with symptoms of anxiety and/or depression: analysis of a randomised controlled trial.

Objectives: The burden of cardiovascular disease (CVD) is increasing. Cardiac rehabilitation (CR) is a complex intervention offered to patients with CVD, following a heart event, diagnosis or intervention, and it aims to reduce mortality and morbidity. The objective of this within-trial economic evaluation was to compare the cost-effectiveness of metacognitive therapy (MCT) plus usual care (UC) to UC, from a health and social care perspective in the UK.

Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of -regulation.

Genome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that links fine-mapped risk variants to candidate target genes by comprehensively mapping cell-type specific chromatin interactions.