Source: Clinical Laboratory News
Qiagen and Sentieon are partnering to deliver Sentieon’s software for calling variants as part of Qiagen’s bioinformatics portfolio, which is designed to support next-generation sequencing labs. Specifically, Qiagen will integrate Sentieon’s DNAseq and TNseq products for germline and somatic variant calling into the CLC Genomics Workbench for biomedical research and the Qiagen Clinical Insight for routine laboratory testing, launching the expanded capabilities later this year. The Sentieon DNAseq tool implements the same mathematics used in the Broad Institute’s Burrows Wheeler Aligner-Genome Analysis Toolkit (GATK) HaplotypeCaller 3.x Best Practice Workflow pipeline, but without downsampling, providing accuracy benchmarked to GATK results. This tool also enables efficient joint calling on 100,000-plus samples simultaneously. Sentieon TNseq, in turn, enables somatic variant detection from tumor-normal pairs with modes that can match either the Broad Institute’s industry-standard MuTect (calling single-nucleotide variants [SNV] in somatic variants) or MuTect2 (calling both SNV and short insertions and deletions). TNseq also enables high-coverage applications like liquid biopsies, processing regions with coverage depths of more than 100,000.