Oxford Nanopore Technologies: Bonito CRF, SV Pipeline 2.0, DeepVariant
Oxford Nanopore Technologies has released a number of new and updated analysis tools and products. Bonito CRF, a new basecalling algorithm currently available for early users, improves modal raw-read accuracy to 98.3 percent on internal validation sets. The new SV Pipeline 2.0 increases structural variation calling precision to 97.5 percent and recall to 95.5 percent. The new DeepVariant tool, when paired with the existing Medaka tool, identifies SNPs with 99.92 percent recall and precision. The company also said it is commercially releasing the R10.3 flow cells for use with the high-throughput PromethIon sequencer and the low-throughput Flongle sequencing adapter.
Qiagen QiaSeq Human Exome TR Insights
Qiagen has introduced QiaSeq Human Exome TR Insights, a whole-exome sequencing workflow that combines chemistry and informatics to enable researchers to sequence and analyze genomic variations across the entire human exome. The workflow comprises three components: the QiaSeq Human Exome Panel; Qiagen CLC Genomics Workbench NGS data-analysis and -visualization software; and QCI Interpret Translational, new software the enables evidence-based variant annotation, filtering, and interpretation. The QCI Interpret Translational component is powered by the Qiagen Knowledge Base of roughly 2 million unique variants expertly selected from more than 300,000 scientific articles. The exome panel component features a hybrid-capture chemistry and workflow that minimizes GC-induced bias and improves capture efficiency and specificity. Balanced coverage across difficult target regions ensures minimal dropouts and false negatives, Qiagen said.
Allelica Coronary Artery Disease Risk Calculator
Allelica has launched a cloud-based tool to enable clinical labs and healthcare providers to calculate an individual's lifetime risk of developing coronary artery disease based on the integration of genetic and traditional risk factors. Built on a secure GDPR- and HIPAA-compliant platform, the technology integrates a newly developed genome-wide polygenic risk score (PRS) for CAD into the pooled cohort equation model. It allows physicians to provide patients with highly customizable visual representations of their risk levels compared to the general population. Users can modify risk factors, like decreases in LDL cholesterol, to show patients how manageable lifestyle changes can actively lower their lifetime risk of heart disease. The calculator was developed and validated using UK Biobank data resources and is the latest addition to Allelica's cloud-based PRS pipeline.
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