CompreheNGSive
Application data |
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Created by | Alex Bigelow |
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Biological application domain(s) | Next Generation Sequencing |
Principal bioinformatics method(s) | Visualisation |
Created at | University of Utah |
Maintained? | Yes |
Input format(s) | VCF |
Output format(s) | SVG |
Programming language(s) | Python, Qt |
Licence | LGPL |
Operating system(s) | Mac OS X, Linux |
Summary: compreheNGSive is an interactive visualization of the end results of the next-generation sequencing pipeline.
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Description
compreheNGSive is an app for analyzing the end results of the next-generation sequencing pipeline. It was developed as part of a visualization design study in collaboration between the University of Utah Division of Genetic Epidemiology and the University of Utah Scientific Computing and Imaging Institute.
In order to find disease-causing genetic variants, the set of millions of variants generated from the NGS variant calling pipeline needs to be filtered down to a manageable list of interesting variants, and then explored in detail. Automated algorithms in this space are often inflexible, support only certain disease models, and tend to be particularly biased toward variants in coding regions of proteins. Complex diseases such as cancer and complex study designs are often incompatible with these algorithms. compreheNGSive is a program that facilitates interactive, visual exploration of variants across the genome using any user-guided heuristics or user-computed annotations.
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