C. Thomas Caskey

Elective genomic sequencing for adults in research, clinical and commercial contexts

The paper examines motivations and outcomes of elective genomic sequencing across research, clinical, and commercial contexts, finding most participants found results medically important but few shared them with healthcare providers.

Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional Diagnostics

This study evaluates a precision health platform integrating whole genome sequencing and noninvasive clinical assessments in 1190 healthy participants, identifying significant genetic and phenotypic findings linked to disease risk.

Profound perturbation of the human metabolome by obesity

This study identifies metabolic and genetic signatures of obesity using metabolome analysis and whole genome sequencing in twin and volunteer cohorts, revealing clinically meaningful heterogeneity.

Unsupervised integration of multimodal dataset identifies novel signatures of health and disease

The paper integrates multimodal health data to identify novel biomarker signatures for health and disease, showing better predictive power for diabetes and hypertension than traditional biomarkers.

Precision Medicine Screening Using Whole Genome Sequencing And Advanced Imaging To Identify Disease Risk In Adults

This paper screens adults using whole genome sequencing and imaging to detect age-related chronic disease risks, finding unrecognized diseases in 8% of participants and genomic correlations in 25%.

Identification of misclassified ClinVar variants using disease population prevalence

The paper identifies misclassified variants in ClinVar by analyzing population prevalence and genetic risk patterns in whole genome sequencing data.