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MendelScan specifications


Unique identifier OMICS_00065
Name MendelScan
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux, Mac OS, Windows
Programming languages Java
License GNU General Public License version 2.0
Computer skills Advanced
Stability Stable
Maintained Yes


  • Primates
    • Homo sapiens




No version available


  • person_outline Daniel C. Koboldt

Publication for MendelScan

MendelScan citations


A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets

Hum Genomics
PMCID: 5441048
PMID: 28532469
DOI: 10.1186/s40246-017-0107-5

[…] fect the gene function and hundreds of candidate variants need to be filtered. So, an improved workflow to identify potential candidate variants involved in the disease is needed. Software package as MendelScan try to solve this providing a composite score improved with tissue expression data []. However, systemic disease or disease involving tissues with multiple cells types and low-quality gene […]


Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts

PLoS Genet
PMCID: 4905677
PMID: 27294265
DOI: 10.1371/journal.pgen.1006090
call_split See protocol

[…] mutations, the exomes were analyzed using step-by-step filtering strategies (). The estimated fraction of shared variants by descent was calculated using the identity-by-descent method implemented by MendelScan version 1.2.1 ( [] according to the autosomal dominant inheritance in Family 1. Genetic variants were first filtered to retain only non-synonymous sin […]

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MendelScan institution(s)
The Genome Institute at Washington University, St. Louis, MO, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX, USA; Ocular Genomics Institute, Harvard Medical School, Boston, MA, USA; Hussman Institute of Human Genomics, University of Miami, Miami, FL, USA
MendelScan funding source(s)
Supported by the Foundation Fighting Blindness, the National Eye Institute (grant EY007142), and the National Human Genome Research Institute (grant HG003079).

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