Established in 2015 by the National Institute of Mental Health (NIMH), the PsychENCODE Consortium (PEC) is a multi-site investigation of the genomic basis of neuropsychiatric diseases. The aim is to create a resource of mechanistic insights to guide future therapeutic development.

Genomic influences on neural function are remarkably complex, characterized by a highly polygenic risk architecture and often located in the non-coding parts of the genome. A key objective of PEC is to delineate an enhanced framework of regulatory genomic elements associated with neuropsychiatric disorders.

Multidisciplinary PEC teams are working to generate large-scale gene expression and regulatory data from human postmortem brains across several major psychiatric disorders. Brain tissue is characterized across multiple developmental stages and include bulk tissue, single cell, and sorted cell types. The goal is to map and functionally validate disease‐associated variants, regulatory elements, genes and cell types.

Data from Phase I was presented in a collection of 11 papers published in Science, Science Translational Medicine, and Science Advances. This collection is summarized in the Science special issue “Revealing the brain’s molecular architecture” . Phase II – which will enhance cellular and developmental resolution – is currently underway.