Publications

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms » FULL ARTICLE
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank » FULL ARTICLE
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry » FULL ARTICLE
Rare coding variants in five DNA damage repair genes associate with timing of natural menopause » FULL ARTICLE
STARE into the future of GeoData integrative analysis » FULL ARTICLE
Gene-level analysis of rare variants in 363,977 whole exome sequences reveals an association of GIGYF1 loss of function with diabetes » FULL ARTICLE
Rapid Single Cell Evaluation of Human Disease and Disorder Targets Using REVEAL SingleCell™ » FULL ARTICLE
Phenome-wide association study of predicted loss of function variants and 34 biomarkers in 255,873 UK Biobank whole exome sequences » FULL ARTICLE
Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes » FULL ARTICLE
Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences » FULL ARTICLE
Speeding Up and Reducing Costs for Genomic Analysis with an Automated Distributed Task Service: a Comparison of REVEAL™: Biobank with Databricks’ Hail and Glow » FULL ARTICLE
Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health » FULL ARTICLE
Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank » FULL ARTICLE
The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy » FULL ARTICLE
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology » FULL ARTICLE
Second Largest Eigenvalue of the Transition Probability Matrix for the Markov Chain Constructed from the Arterial Blood Pressure Waveform is Not Correlated to Shock Index in Hemorrhagic Human Subjects » FULL ARTICLE
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study » FULL ARTICLE
Bayesian model comparison for rare variant association studies of multiple phenotypes » FULL ARTICLE
Visual analytics with unparalleled variety scaling for big earth data » FULL ARTICLE
Deep Learning for Robust Phenotyping of High Content Cellular Images » FULL ARTICLE
Closing the Data Loop: An Integrated Open Access Analysis Platform for the MIMIC Database » FULL ARTICLE
Benchmarking SciDB data import on HPC systems. IEEE High Performance » FULL ARTICLE
Predicting Significance of Unknown Variants in Glial Tumors Through Sub-Class Enrichment » FULL ARTICLE
Analysis of Metabolomics Datasets with High-Performance Computing and Metabolite Atlases » FULL ARTICLE