DNAscope Ultima Genomics Pipeline

  • Customized DNAscope Pangenome pipeline;
  • Highest accuracy: F1 Score SNP 99.8%, Indel 95.0%;
  • Calling variants from 30x WGS within 100 mins;

Access to current DNAscope Ultima Performance Datasheet (PDF version)

Optimized Pipeline with Higher Accuracy

Significantly higher than Ultima-GATK

Error counts for DNAscope Pangenome across 30× Ultima WGS datasets. Total errors fall between roughly 30k and 80k for the HG001–HG007 samples, with Indel false-negatives making up most errors. Notably, sample HG003 was held out during model training, so its performance reflects true out-of-sample accuracy.

Illumina Equivalent Accuracy outside Long Homopolymer Region

Error counts for the HG002 dataset across three workflows: the Ultima pangenome pipeline (DNAscope Pangenome), the Illumina linear-genome pipeline (DNAscope), and the Illumina pangenome pipeline. Solid color bars represent errors outside long homopolymer regions, and dashed boxs represent errors within these regions. Excluding long homopolymer regions markedly reduces errors and brings Ultima performance in line with Illumina.

Partner to achieve $100 Genome

“We are delighted to support Ultima’s UG 100 platform as it increases the potential for scale in the high-volume sequencing market. This partnership enables Ultima’s customers to gain additional efficiencies when generating high-quality sequencing data by lowering the cost of computing. “

Jun Ye – CEO of Sentieon

Click here – search publications applying DNAscope on Ultima Genomics datasets
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