Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes

Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences

Speeding Up and Reducing Costs for Genomic Analysis with an Automated Distributed Task Service: a Comparison of REVEAL™: Biobank with Databricks’ Hail and Glow

Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health

Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank