Search Results for "disease"

...This situation leads to the prevalence of recessive diseases among the members of these families. Homozygosity mapping is based on this observation and several recessive disease genes have been discovered with the help of this technique in consanguineous families. The researchers typically use SNP arrays to determine the homozygous regions and then search for the disease gene by sequencing the genes within this candidate disease loci. Recently, the advent of next generation sequencing enables the concurrent identification of homozygous regions and the detection of mutations relevant for diagnosis, using data from a single sequencing experiment. ...

...VarImpact extracts experimentally observed changes from the literature. This allows to annotate sequencing results with observed impacts, gather information about the mutational landscape observed in disease populations, and to study disease mechanisms. Check our Wiki for more!

MendelScan is a tool for prioritizing candidate variants in family-based studies of inherited disease.

...Using PathNER, you can identify all occurrences of informative pathway names (e.g. 'the Wnt pathway'). PathNER can be used to assist studies that aim at uncovering associations between disease and pathways.

...It takes advantage of the data integration capabilities in the SM2PH-Central Framework(KD4v,MSV3d,BIRD,..), combined with in-house developed gene prioritization methods. It currently incorporates six prioritization modules, based on gene sequence, protein-protein interactions, gene expression, disease-causing probabilities, genomic context). GEPETTO is written in Java/Python and supported by an advanced modular architecture, which means that it can easily be modified and extended by the user, in order to include alternative scoring methods and new data sources. We intend to extend the system from gene-level to variant-level prioritization, by exploiting the variant data in the MSV3D database. ...

Olorin is an interactive filtering tool for next generation sequencing data coming from the study of large complex disease pedigrees.

The Disease Simulation Framework (DiSiF) represents a spatial simulation environment for infectious viral disease spread. The framework currently embodies a very simple framework for simulation in 2D space with focus on SARS and the Common Flu.