SADDLE approach uses computational primer design to minimize primer-dimer formation, and thus does not require enzymatic primers and primer-dimer removal.
The results show detection of CNVs down to 5% heterozygous single copy gain or loss, and mutations down to 0.1% variant allele frequency (VAF), from both formalin-fixed, paraffin-embedded (FFPE) tissue samples and from cell-free DNA (cfDNA) samples1.
NuProbe published research demonstrating new technology to qualitatively and quantitively detect multiple low-frequency variants in one quantitative PCR (qPCR) reaction.
By integrating molecular barcoding technology with the Blocker Displacement Amplification (BDA) allele enrichment, the team invented the new quantitative BDA (QBDA) method that overcomes potential biases in BDA to enable accurate VAF quantitation.
OCEANS enables rapid, accurate, and affordable detection of somatic mutations as low as 0.05% VAF. This novel research will facilitate the development of same-day, low-cost oncology panels for time-sensitive therapy selection and recurrence monitoring.
The findings, published in Nature Communications, are the latest research leveraging machine learning to improving the efficiency and accuracy of genomics. The study was co-authored by researchers from NuProbe USA, Rice University, and Microsoft Research UK.
Research published in Nature Biomedical Engineering demonstrates NuProbe’s technology can enable detecting SNVs in DNA with a VAF of ≤0.02% using a sequencing depth of only 250x.