University of Mississippi Medical Center

Analysis of protein-coding genetic variation in 60,706 humans

The mutational constraint spectrum quantified from variation in 141,456 humans

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly d...

A structural variation reference for medical and population genetics

Mendelian randomization of blood lipids for coronary heart disease

The genetic findings support a causal effect of triglycerides on CHD risk, but a causal role for HDL-C, though possible, remains less certain.

Associations Between Midlife Vascular Risk Factors and 25-Year Incident Dementia in the Atherosclerosis Risk in Communities (ARIC) Cohort

Midlife vascular risk factors are associated with increased risk of dementia in black and white ARIC Study participants. Further studies are needed to evaluate the mechanism of ...

Population Structure in Admixed Populations: Effect of Admixture Dynamics on the Pattern of Linkage Disequilibrium

Deficits of visual attention and saccadic eye movements after lesions of parietooccipital cortex in monkeys

1. Visual attention is often profoundly disturbed in humans after damage to the cortex of the posterior parietal lobe, particularly of the minor hemisphere, with some patients b...

Transcript expression-aware annotation improves rare variant interpretation

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...