We demonstrate the additive power of integrating GWAS- and EHR-derived risk scores to predict HF cases prior to diagnosis. This standardizable and scalable risk predictor may enable physicians to provide earlier interventions to improve patient outcomes.

Not with a bang but with a whimper

Elimination status is lost if the virus spreads continuously for 12 months.

The second Trump administration has been defined by widespread cuts to federal spending, including at the National Institutes of Health (NIH). | The second Trump administration has been defined by wid...

Unlike in the past, agency searches appear to exclude help from outside academic researchers

Background: Although physical activity recommendations increasingly consider daily step counts, it remains unclear whether step accumulation patterns—short versus sustained longer bouts—affect associa...

Abstract. Despite striking successes in identifying novel biomarkers for improved patient stratification and predicting disease progression, numerous chall

A large proportion of individuals with celiac disease (CeD) remain undiagnosed, often presenting at an older age of onset or with non-classical symptoms compared to diagnosed cases. Such heterogeneity might be related to genetic factors. The aim was to utilize a CeD-screened adult population to compare the genetic variants in known and newly diagnosed cases. In the fourth wave of the population-based Trøndelag Health Study (HUNT4) 826 CeD and 51,516 non-CeD individuals were included. Medical registries identified 361 previously diagnosed cases, while screening identified 465 new cases. A validated polygenic risk score (PRS) was used to assess the genetic risk of CeD among the two case groups versus non-CeD individuals. Additional genetic variants not included in the PRS were also analyzed. The PRS distinguished cases from non-cases with high accuracy (AUROC: 85% for known cases, 83% for new cases). The genetic variation explained by the PRS was similar for known and new cases (17.1% versus 14.5%). The odds ratio for being in the highest genetic risk group (top 10%) was 22.7 (95% CI 14.1–36.4) for known cases and 18.6 (95% CI 12.4–27.9) for new cases versus the median group (40%-60%). Differences in effect size among specific genome-wide variants were observed but were not significantly associated with CeD. A validated PRS showed significant genetic difference between CeD cases and the general population, with similar association in both known and newly diagnosed cases. This suggests that genetic architectures of the two groups are comparable, implying that other non-genetic factors may drive CeD in adults.

Systematic comparison of genome-wide association results for disease risk and disease-specific mortality for nine common diseases across seven biobanks finds limited overlap between genetic effects on disease susceptibility and survival.

Unlike most nonimmigrant classifications, which are admitted for a fixed time period, aliens in the F (academic student), J (exchange visitor), and most I (representatives of foreign information media...