This is the initial release of MendelScan, a software package for analyzing variants identified by family-based sequencing of rare genetic diseases. There are three main functions included with this release:
score-- prioritize variants in a VCF based upon segregation, annotation, population frequency, and gene expression
rhro-- apply rare heterozygote rule out to map dominant disease genes
sibd-- apply shared IBD analysis to map disease genes
A manuscript describing this tool has been submitted; in the interim, please cite MendelScan by noting the version number and citing its home URL: http://gmt.genome.wustl.edu/mendelscan.