Jac Charlesworth

TL;DR: To highlight the usefulness of this much-enlarged map of cis-regulated transcripts for the discovery of genes that influence complex traits in humans, as an example, high-density lipoprotein cholesterol concentration is selected as a phenotype of clinical importance and the cis- regulated vanin 1 (VNN1) gene is identified as harboring sequence variants that influence high- density lipop protein cholesterol concentrations.

TL;DR: The endophenotype ranking value is described, a new objective index of the genetic utility of endophenotypes for any heritable illness, and should spur new insights into the biological mechanisms that influence mental illnesses like major depression.

TL;DR: The data set simulated for Genetic Analysis Workshop 17 was designed to mimic a subset of data that might be produced in a full exome screen for a complex disorder and related risk factors in order to permit workshop participants to investigate issues of study design and statistical genetic analysis.

TL;DR: This work identifies four novel genes driving MS risk independently of common-variant signals, highlighting key pathogenic roles for regulatory T cell homeostasis and regulation, IFNγ biology, and NFκB signaling.

TL;DR: This is the largest in vivo transcriptomic epidemiological study of smoking to date and reveals the significant and comprehensive influence of cigarette smoke, as an environmental variable, on the expression of genes.