P0980 Assembling and Analyzing SNPs, Genes and Gene Ontology for Multiple Next-Gen Sequencing Samples on a Desktop Computer

Matthew Keyser , DNASTAR, Inc., Madison, WI
DNASTAR has developed an integrated suite of software programs for assembling and analyzing next-generation sequence data from all of the major platforms and supporting key workflows on a desktop computer.  Supported applications include assembling and analyzing multiple samples using one reference template; probabilistic identification of SNPs, small indels and genotype calls with known variants correlated to their dbSNP and COSMIC IDs; identification of structural variations; review of SNPs from multiple samples within a single project; and, for large multi-sample projects with hundreds of individual data sets, tools for SNP quantitation, filtering, set comparison and clustering as well as the gene disruption impact from called SNPs.  Interactive views within various components of the software facilitate fast, comprehensive analysis and understanding, helping scientists move quickly from raw next-gen sequencing data to genetic and genomic impact.  By using innovative algorithms within the software, scientists can have all of the assembly and analysis capability available to them on their desktop computer, supporting large data sets generated by traditional next-gen sequencing instruments and large numbers of small data sets beginning to be produced by bench-top next-gen sequencing instruments.