NOV 11, 2015 12:00 PM PST

DNASTAR Software for Accurate Variant Detection and Validation in Targeted Gene Panel Data Sets

Speaker
  • Senior Manager, NGS Applications, DNASTAR
    Biography
      Matthew Keyser is Senior Manager, NGS Applications for DNASTAR, where he has helped scientists address their sequence assembly and analysis challenges for the past seven years. Matts sole focus at DNASTAR is supporting customers in next-gen sequencing applications using DNASTARs broad software toolset. Matt helps customers with their templated and de novo assembly projects, transcriptomes, exomes, metagenomic assemblies, RNA-Seq, ChIP-Seq and numerous other unique experiments. Matt has helped hundreds of scientists optimize their workflows using DNASTARs next-gen software solutions. He has also spoken at numerous conferences and workshops regarding the capabilities of DNASTARs next-gen software tools.

    Abstract

    DNASTAR offers an integrated suite of software for accurate assembly, alignment, and analysis of sequence data from all major next-generation sequencing platforms, supporting key workflows including targeted resequencing and variant detection. The DNASTAR gene panel workflow supports all gene panel sets from Illumina and Ion Torrent, as well as custom gene panel data sets. The efficiency of variant detection in gene panels is determined by multiple factors, including specificity of primers and probes used for gene panel design; efficiency of the sequencing technology; accuracy of assembly; accuracy of variant calling; and stringency of variant filters. When gene panel sequencing data is used in conjunction with a validated variant data set, DNASTAR software can calculate variant calling sensitivity, specificity, and accuracy. By utilizing this workflow, users can validate their entire gene panel assembly and analysis process and the speed and accuracy of DNASTAR software.


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