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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:
java -jar MendelScan.jar score -- prioritize variants in a VCF based upon segregation, annotation, population frequency, and gene expression
java -jar MendelScan.jar rhro -- apply rare heterozygote rule out to map dominant disease genes
java -jar MendelScan.jar 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.