Below, we describe the code used in Guo MH and Gregg AR. "Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels." [provisionally accepted at Genetics in Medicine]. 2018

Python v2.7 and R v3.1 were used throughout.

#Download parsed ClinVar data:
git clone https://github.com/macarthur-lab/clinvar.git

#Parse and subset ClinVar data
python subset_clinvar.py clinvar_subset_table.txt

#Generate carrier frequencies
Rscript sum_AF.R

#Generate plots
Rscript plot.R