Alexander H. Li

TL;DR: A loss‐of‐function variant in HSD17B13 was associated with a reduced risk of chronic liver disease and of progression from steatosis to steatohepatitis.

TL;DR: Exome-wide association analyses of EHR-derived lipid values, newly implicating rare predicted LoFs, and deleterious missense variants in G6PC in association with triglyceride levels found associations supporting the majority of therapeutic targets for lipid lowering.

TL;DR: Analysis of genetic data and blood lipid measurements from over 300,000 participants in the Million Veteran Program identifies new associations for blood lipid traits and proposes novel indications for pharmaceutical inhibitors targeting PCSK9, ANGPTL4 (type 2 diabetes) and PDE3B (triglycerides and coronary disease).

TL;DR: The release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants, illustrating the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes and demonstrating the value of genome sequencing in large population-based studies.

TL;DR: Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease followed by whole-exome sequencing of affected relatives identified causative mutations in TGFB2, suggesting that the initial pathway driving disease is decreased cellular TGF-β2 levels leading to a secondary increase in T GF- β2 production in the diseased aorta.