Colorado School of Public Health

A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010

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...

Comparison of Novel Risk Markers for Improvement in Cardiovascular Risk Assessment in Intermediate-Risk Individuals

Coronary artery calcium, ankle-brachial index, high-sensitivity CRP, and family history were independent predictors of incident CHD/CVD in intermediate-risk individuals. Coronar...

A structural variation reference for medical and population genetics

Performance of 3-Dimensional Echocardiography in Measuring Left Ventricular Volumes and Ejection Fraction

An analysis of efforts to scale up clean household energy for cooking around the world

Approximately 3 billion people, most of whom live in Asia, Africa, and the Americas, rely on solid fuels (i.e. wood, crop wastes, dung, charcoal) and kerosene for their cooking ...

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 ...

Evaluating drug targets through human loss-of-function genetic variation

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes