Through a unique sequence analysis pipeline for high quality variant detection in whole genome and exome sequencing applications, RTG Investigator offers the highest possible confidence in SNP calling.  The accurate identification of known genetic variants and the discovery of "private" variants in previously unsequenced individuals are prerequisites for personalized medicine and genome-based diagnostics. 

This technical white paper (The RTG Pipeline for High Performance Variant Detection in Whole Genome and Exome Sequencing Applications) provides an in-depth description of the workflow and summarizes the variant analysis results, particularly in comparison with that of the BWA/GATK pipeline.  The performance metrics reported, both accuracy and overall analysis speed, indicate that this method for SNP/Indel calling will provide an excellent foundation for human disease investigations. 

Download RTG Investigator now for free individual use, or contact us for an evaluation with large scale datasets.