Thread by @thatdnaguy

#ASHG21 SK: Samuel Kim.
Leveraging single-cell ATAC-seq to identify disease-critical fetal and adult brain cell types.
biorxiv.org/content/10.110…

#ASHG21 SK: need to go from disease-critical cell type identification to disease mechanism.

#ASHG21 SK: goals include to identify disease critical cell types from scATAC and impact on different cells types and different stages.

#ASHG21 SK: 28 brain traits. 6 non-brain related control traits. 4 single-cell atlases of the brain. Fetal and adult. scRNA-Seq and scATAC-Seq.

#ASHG21 SK: Use stratified LD score regression (S-LDSC). find two things. Enrichment and standardized effect.
scATAC union of per dataset open chromatin regions
[ missed the scRNA data ]

#ASHG21 SK: identified more significant disease-cell type pairs from scATAC-Seq. 13 cells types appeared in both data.

#ASHG21 SK: confirmed associations of schizophrenia, MDD and ADHD genetic associations with excitatory neuron cell types.

#ASHG21 SK: insomnia associated with photoreceptor cell type [ that's interesting ]