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.
Jake
-----Original Message-----
From: Mark Gerstein <mark@gersteinlab.org>
Sent: Thursday, February 14, 2019 7:07 PM
To: Chen, Jake Y <jakechen@uab.edu>
Cc: glabstracts.mbglab@blogger.com
Subject: Abstract for keynote talk at MCBIOS '19, Birmingham, AL Mar 28-30th (* i0mcbios *)
Talk Title:
Brain Genomics
Abstract:
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.
URL:
resource.psychencode.org
Thursday, February 14, 2019
Abstract for keynote talk at MCBIOS '19, Birmingham, AL Mar 28-30th (* i0mcbios *)
Talk Title:
Brain Genomics
Abstract:
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.
URL:
resource.psychencode.org
Brain Genomics
Abstract:
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.
URL:
resource.psychencode.org
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