Software

CNV GDRC Paper

We use rare variant burden tests to estimate monotonicity and trait buffering. Scripts to accomplish this can be found here.

CHEERS Update

CHEERS was a tool written to test for enrichment of SNPs in ATAC-seq peaks specific to cell types. I rewrote this tool for Python 3 and made it more efficient. It can be found on a separate branch here.

LeanGoShifter

goshifter was a tool written to test the enrichment of GWAS loci in genomic annotations. I rewrote the basic functionality in Python 3 to make it more efficient. It can be found here.

Data

CNV GDRC Paper

We performed rare variant burden tests using loss-of-function (LoF) variants, deletions, and duplications in the UK Biobank for over 400 traits. These can be found here.

Alzheimer's Disease Summary Statistics

We used co-expression networks to generate latent gene expression factors, that we mapped to the genome using a single-variant association analysis approach. We also mapped Alzheimer's case subtypes using the same approach. The summary statistics from these association tests can be found here.