Thursday, February 14, 2019

RE: Abstract for keynote talk at MCBIOS '19, Birmingham, AL Mar 28-30th (* i0mcbios *)

Thank you, Mark! Yes, this will be a great topic for the audience. Look forward to meeting you next month. Feel free to email or contact me should you need any further help. My cell phone is 317.622.8881.


-----Original Message-----
From: Mark Gerstein <>
Sent: Thursday, February 14, 2019 7:07 PM
To: Chen, Jake Y <>
Subject: Abstract for keynote talk at MCBIOS '19, Birmingham, AL Mar 28-30th (* i0mcbios *)

Talk Title:

Brain Genomics


Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Integration shows that varying cell-type proportions largely account for the cross-population variation in expression (with
>88% reconstruction accuracy). It also allows the building of a gene
regulatory network, linking genome-wide association study variants to genes (e.g., 321 for schizophrenia). We embed this network into an interpretable deep-learning model, which improves disease prediction by ~6-fold versus polygenic risk scores and identifies key genes and pathways in psychiatric disorders.


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