MendelScan 1.2.2
:: DESCRIPTION
MendelScan is a software package for analyzing targeted, whole-exome, or whole-genome sequencing data in family studies of inherited disease. Given the variant calls for a family (VCF file) and pedigree/phenotype information, MendelScan allows you to prioritize candidate variants based upon segregation, annotation, population frequency, and gene expression information. It also enables the mapping of disease genes using two novel algorithms: rare heterozygote rule out (RHRO) and shared identity-by-descent (SIBD).
::DEVELOPER
The Genome Institute at Washington University
:: SCREENSHOTS
N/A
:: REQUIREMENTS
- Linux/MacOsX
- Java
:: DOWNLOAD
:: MORE INFORMATION
Citation:
Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.
Exome-based mapping and variant prioritization for inherited Mendelian disorders.
Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP