David H. Kavanagh

TL;DR: It is shown that schizophrenia is polygenic and the utility of this resource of gene expression and its genetic regulation for mechanistic interpretations of genetic liability for brain diseases is highlighted.

TL;DR: The ExAC browser provides gene- and transcript-centric displays of variation, a critical view for clinical applications, and provides a variant display, which includes population frequency and functional annotation data as well as short read support for the called variant.

TL;DR: The PsychENCODE project aims to produce a public resource of multidimensional genomic data using tissue- and cell type–specific samples from approximately 1,000 phenotypically well-characterized, high-quality healthy and disease-affected human post-mortem brains, as well as functionally characterize disease-associated regulatory elements and variants in model systems.

TL;DR: Co-expression analyses identify a gene module that shows enrichment for genetic associations and is thus relevant for schizophrenia, paving the way for mechanistic interpretations of genetic liability for schizophrenia and other brain diseases.

TL;DR: This work characterized the rates and properties of rare genic CNVs in exome sequencing data from nearly 60,000 individuals in the Exome Aggregation Consortium (ExAC) database, and empirically estimated an index of relative intolerance to CNVs that demonstrated moderate correlation with measures of genic constraint based on single-nucleotide variation (SNV) and was independently correlated with Measures of evolutionary conservation.