Association between genetic predisposition and disease burden of stroke in China: a genetic epidemiological study.

Background: Stroke ranks second worldwide and first in China as a leading cause of death and disability. It has a polygenic architecture and is influenced by environmental and lifestyle factors. However, it remains unknown as to whether and how much the genetic predisposition of stroke is associated with disease burden.

The effect of dietary carbohydrate and calorie restriction on weight and metabolic health in overweight/obese individuals: a multi-center randomized controlled trial.

Background: Both low-carbohydrate (LC) and calorie-restricted (CR) diets have been shown to have metabolic benefits. However, the two regimens have yet to be thoroughly compared. We conducted a 12-week randomized trial to compare the effects of these diets separately and in combination on both weight loss and metabolic risk factors in overweight/obese individuals.

A graph neural network-based interpretable framework reveals a novel DNA fragility-associated chromatin structural unit.

Background: DNA double-strand breaks (DSBs) are among the most deleterious DNA lesions, and they can cause cancer if improperly repaired. Recent chromosome conformation capture techniques, such as Hi-C, have enabled the identification of relationships between the 3D chromatin structure and DSBs, but little is known about how to explain these relationships, especially from global contact maps, or their contributions to DSB formation.

Results: Here, we propose a framework that integrates graph neural network (GNN) to unravel the relationship between 3D chromatin structure and DSBs using an advanced interpretable technique GNNExplainer.

Truncating Variants in Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.

Background: The presence of variants in was identified to be linked to hypertrophic cardiomyopathy (HCM), but whether truncating variants were associated with HCM remained unknown.

Methods: Whole-exome sequencing was performed in 986 patients with HCM and 761 non-HCM controls to search for truncating variants, and the result was tested in a replication cohort consisting of 529 patients with HCM and 307 controls. The association of the truncating variants with baseline characteristics and prognosis of patients with HCM were ascertained.