Accurate genomic variant detection is an essential step in gleaning medically useful information from genome data. However, low concordance among variant-calling methods reduces confidence in the clinical validity of whole genome and exome sequence data, and confounds downstream…
G T A T C G C T A Genome Analysis… Genome Analysis Toolkit-Queue

GATK-Queue Genome Analysis Toolkit-Queue

A command-line scripting framework for defining multi-stage genomic analysis…

A command-line scripting framework for defining multi-stage genomic analysis pipelines combined with an execution manager that runs those pipelines from end-to-end. Often processing genome data…

Desktop app
G T A T C G C T A ReliableGenome ReliableGenome

RG ReliableGenome

A method for calculating concordant and discordant regions with respect to a…

A method for calculating concordant and discordant regions with respect to a set of surveyed variant calling (VC) pipelines. ReliableGenome combines call sets derived by multiple pipelines from…

Desktop app
G T A T C G C T A GATK… GATK VariantRecalibrator

GATK VariantRecalibrator

Builds a recalibration model to score variant quality for filtering purposes.…

Builds a recalibration model to score variant quality for filtering purposes. VariantRecalibrator performs the first pass in a two-stage process called VQSR; the second pass is performed by the…

Desktop app
G T A T C G C T A VariantMetaCaller VariantMetaCaller

VariantMetaCaller

Automatically integrates variant calling pipelines into a better performing…

Automatically integrates variant calling pipelines into a better performing overall model that also predicts accurate variant probabilities. VariantMetaCaller uses Support Vector Machines to combine…

Desktop app
G T A T C G C T A BAYeSian Integrated… BAYeSian Integrated Caller

BAYSIC BAYeSian Integrated Caller

Provides a method for combining sets of SNP variant calls produced by different…

Provides a method for combining sets of SNP variant calls produced by different variant calling programs. The integrated set of SNP variant calls produced by BAYSIC™ improves the sensitivity and…

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