Appistry Extends Its Tools and Services for Analyzing Next-Generation Sequencing Data Appistry

Appistry Extends Its Tools and Services for Analyzing Next-Generation Sequencing Data

Posted on: 02 Apr 15

Appistry Inc. a leading provider of tools software and services that enable healthcare institutions to practice genomically enhanced medicine today announced extensions to its next-generation sequencing (NGS) data analysis tools. An expanded set of analysis tools and pipelines is now available from Appistry through a new software application GenomePilot.

GenomePilot addresses a critical bottleneck in the NGS analysis workflow. To date most NGS analysis software has focused on enabling bioinformatics experts to create analysis pipelines and visualize the results of analysis runs. But with clinical labs rapidly adopting NGS technology the need is growing for analysis solutions that can be easily deployed and used within the laboratory environment. In particular CLIA regulations have put pressure on labs to adopt robust reproducible processes not just for generating sequencing data but for identifying genetic variants within the data. Most available analysis tools though have been developed for research use and lack the tracking and auditing functions the labs need to meet CLIA certification requirements.

"We have clinical customers around the globe scaling their genomic analysis operations" said Jason Jones national director of healthcare strategy for the Dell Enterprise Solutions Group. "They seek even more simplicity and efficiency in their NGS solutions utilizing our products with best-of-breed NGS tools working in complex NGS pipelines. Therefore we are pleased that we can support the innovation of our partners like Appistry to simplify the use of NGS workflows and genomic analysis toolsets by making GenomePilot available on Dell workstations and rack mounted servers."

GenomePilot organizes NGS tools data and processes in a user-friendly browser-based interface. Context-sensitive prompts guide users in creating new processes selecting parameters for analyses and monitoring the progress of runs. The application includes several preconfigured pipelines for common analysis tasks such as quality control alignment single-sample analysis (exome whole genome or gene panels) and tumor/normal and tumor-only cancer studies.

To address a diversity of modern genetic analysis problems GenomePilot features a broad range of best-in-class tools for NGS analysis that can be selected for use in analysis processes such as the Genome Analysis Toolkit (GATK) and MuTect from the Broad Institute SomaticSniper from Washington University and respected datasources for annotating variants such as COSMIC 1000 Genomes and ClinVar. GenomePilot also integrates with Appistry's VarSeeker which enables laboratory technicians and clinical genomicists to mine variants and assemble reports based on sequencing results.

"In our discussions with hundreds of genomics researchers over the past three years we've heard how hard even the best analysis tools can be to configure and use" said Kevin Haar chief executive officer at Appistry. "Not every lab has the resources or expertise to invest in sophisticated bioinformatics or scripting expertise—and those that do would prefer their scientists not waste that expertise babysitting routine analysis tasks. GenomePilot enables any organization—even those without access to a bioinformatics core—to more rapidly and efficiently transform raw sequencing data into actionable variants."

Appistry also announced that as of April 15 2015 it will begin a transition process to return commercial licensing options to the Broad Institute per the institution's request and contractual right. Appistry will continue to support all Appistry licensed users of the commercial versions of the GATK and Appistry's Cancer Genome Analysis Suite until their licenses expire. Commercial entities seeking access to the GATK or MuTect after April 15 2015 should contact the Broad Institute for information on availability and licensing terms.

"There are many sophisticated tools for analysis of sequencing data and labs want the flexibility to those tools best suited to their specific analysis challenges" said Haar. "GenomePilot provides a means to make a rich set of tools available to a broad audience and it's key to our efforts to continue to make tools developed by the Broad Institute as well as other best-in-class commercial and open-source tools easier for any lab to implement and apply."

Appistry will demonstrate GenomePilot at two upcoming conferences: the American Association of Cancer Research in Philadelphia April 18-22 and the BioITWorld Conference and Expo in Boston April 21-23. For more information visit

About Appistry

Appistry Inc. helps clinical labs research institutions and hospitals capitalize on genomics data so that they can practice genomically enhanced medicine. Our world-class bioinformatics tools cloud services and software streamline the analysis of NGS data and make genome-scale data actionable in guiding research projects and informing clinical decisions. Learn more by connecting with Appistry on Facebook Twitter and LinkedIn.


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