Core genes identified for ulcerative colitis, coronary artery disease, and other traits by a multi-modal graph machine-learning pipeline are expressed in disease-relevant tissues. Core genes demons...

The sparse marginal epistasis test overcomes computational limitations of previous mapping approaches by focusing its epistatic search to regions of the genome that have some known functional...

Aggregation tests were developed to increase power to detect associations with rare variants. Bose et al. investigate a range of genetic models and sample sizes and demonstrate how sample size ×...

Sparse factorization framework to integrate GWAS studies and identify shared latent genetic components - aomdahl/gleanr_workflow

We developed a computational method to identify genetic pathways shared among complex traits that applies matrix factorization to decompose genetic associations across hundreds of phenotypes. Our...

Baker et al. present a cloud-based training program using the All of Us Researcher Workbench to teach large-scale genomic data analysis. Early-career researchers gained hands-on experience in GWASs,...

In ICU-admitted adults 18–40 years old, exome sequencing, a broad genetic test examining all protein-coding genes, reveals a diagnosis in 24.4% of patients and significant race-based disparities....

This study leverages biobank data to identify rare coding variants that increase risk across 41 genes linked to 18 clinically actionable conditions. By calibrating this population enrichment within...

We report that genetic predisposition influencing serum immunoglobulin E (sIgE) levels is associated with the development of allergies in children, including food allergy and atopic dermatitis....

We present a method that combines inferred gene genealogical trees with local ancestry calls to estimate ancestry-specific expected genetic relationship matrix (as-eGRM) for admixed populations....

We report on an international survey of health data ecosystems (HDEs) based on live interviews with project leaders in a dozen countries. The remarkable diversity of HDEs works against collective...

We examined variants of CASR associated with autosomal-dominant hypocalcemia type 1 (ADH1) and created a score to identify 9 additional variants. The symptom burden of ADH1 was ≥2-fold higher than...