Stacey Gabriel

TL;DR: The authors reported a low median exonic mutation frequency of 0.60 per Mb (0.48 nonsilent) and notably few recurrently mutated genes in high-risk neuroblastoma.

TL;DR: The results better delimit the historical details of human protein-coding variation, show the profound effect of recent human history on the burden of deleterious SNVs segregating in contemporary populations, and provide important practical information that can be used to prioritize variants in disease-gene discovery.

TL;DR: Three robust HCC subclasses are observed, each correlated with clinical parameters such as tumor size, extent of cellular differentiation, and serum alpha-fetoprotein levels, and it is indicated that S1 reflected aberrant activation of the WNT signaling pathway, S2 was characterized by proliferation as well as MYC and AKT activation, and S3 was associated with hepatocyte differentiation.

TL;DR: In this article, the authors proposed a method to detect the presence of cancer in the human genome using the Human Genome Research Institute (HGRI) grant U54HG003067.

TL;DR: Rare mutations that disrupt AP OC3 function were associated with lower levels of plasma triglycerides and APOC3, and carriers of these mutations were found to have a reduced risk of coronary heart disease.