The DRAGEN Germline V2 Pipeline provides ultra-rapid analysis of next generation sequencing (NGS) data. The DRAGEN Germline V2 Pipeline reduces the time required to analyze a whole human genome from ~30 hours with industry standard BWA-GATK-HC software to ~25 minutes, while still achieving industry-leading sensitivity and specificity. New features in the DRAGEN Germline V2 Pipeline are improved mapper and alignment algorithms and a new error correction algorithm that improves variant calling accuracy.
DRAGEN Germline V2 Pipeline
The DRAGEN Germline V2 Pipeline provides rapid genome sequence analysis with industry-leading accuracy. DRAGEN can stream BCL data directly from sequencer storage, a solution unique to the DRAGEN pipeline, or can convert BCL to FASTQ or BAM/CRAM, then proceed with the standard pipeline. A new sample prep and sequencing error correction algorithm in V2 improves variant-calling accuracy, particularly for INDELs. DRAGEN Germline V2 Pipeline was a top performer at the 2017 Precision FDA Hidden Treasures Challenge. It is available onsite or in the cloud through Amazon Web Services.
Efficient Multi Sample Processing
DRAGEN is capable of processing BCL data directly, eliminating any FASTQ conversion step. The BCL data is fed directly into the pipeline to produce a unique output VCF file for each sample. Intermediate BAM/CRAM files can be generated on demand. To streamline and automate multi-sample processing, DRAGEN offers a comprehensive Workflow Management System (WMS), which allows users to schedule multiple workflow runs for any pipeline.
Ultra-Rapid Analysis: # Genomes Sequenced in 48 Hours*
Speed: Single Sample Pipeline*
Speed: Multi Sample Pipeline*
**BCL direct to VCF capability is unique to the DRAGEN pipeline.
ROC Plots of Variant Calling Accuracy: DRAGEN V2 vs. GATK 3.6
ROC of SNPs: A SNP (single nucleotide polymorphism) is a single base that differs between two genomes, in this case between the reference human genome hg19 and the NIST Genome in a Bottle sample SRA066922 NA12878 at 30x coverage. DRAGEN V2 and GATK 3.6 HaplotypeCaller performed comparably in SNP calling accuracy.
ROC of INDELs: An INDEL (insertion or deletion) is an insertion or deletion of one or more base pairs in a sample genome compared to the reference. The sample was SRA056922 NA12878 at 30x coverage. DRAGEN V2 outperformed GATK 3.6 HC in accuracy of calling INDELs.