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
GATK-Queue
Cloud

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…

G T A T C G C T A
RG
Desktop

RG ReliableGenome

Calculates concordant and discordant regions with respect to a set of surveyed…

Calculates concordant and discordant regions with respect to a set of surveyed variant calling (VC) pipelines. ReliableGenome combines call sets derived by multiple pipelines from arbitrary numbers…

G T A T C G C T A
GATK…
Desktop

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…

G T A T C G C T A
VariantMetaCall…
Desktop

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…

G T A T C G C T A
BAYSIC
Desktop

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…

Information

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.