What variants in your NGS data really matter?

Introducing the VAA Suite for analyzing, annotating, and filtering variants. Learn how you can pinpoint the variants most relevant to your research.

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Solutions for Next-Generation Medicine

From the Appistry Knowledge Center


Introducing Appistry’s Variant Annotation and Analysis Suite

The real challenge in NGS analysis is identifying the causal variants that may be associated with disease. Learn how Appistry is streamlining this process with an integrated suite of post-processing […]


Comparison of Haplotype Caller Performance Using Joint Discovery and Reference Confidence Modes

This application note compares the performance of the joint discovery mode used in GATK 2 with the reference confidence model for incremental joint discovery introduced by the Broad Institute with […]


The Impact of Different Sample Types and Filtering Modes on MuTect’s Variant Calling Performance

This application note explores MuTect’s variant calling ability when processing three different sample types: a matched tumor/normal pair, a tumor-only sample, and a tumor sample with an unmatched normal. MuTect […]


Efficient Use of GenotypeGVCFs and CombineGVCFs in the GATK to Minimize Runtime

This application note explores the impact of memory allocation and parallel processing on the efficiency of two new tools introduced with GATK 3. Access this note to learn the most […]


Appistry Delivers Suite of Tools for Variant Annotation and Analysis

Integrated tools assist researchers with identifying variants of interest in next-generation sequencing (NGS) data ST LOUIS, MO (August 25, 2014) –Appistry, Inc., a leading provider of tools, software, and services […]


An Integrated Workflow for Determining Differential Expression and Variants from RNA-Seq Reads

Learn how Appistry is building on work at the Broad Institute by delivering an integrated workflow for RNA-Seq analysis. Dr. Rich Mazzarella, Appistry’s chief scientific officer, will describe a workflow […]