Harnessing Whole Genome and Transcriptome Information To Drive Innovation in Fusion and Somatic Variant Detection

Clinically relevant and other highly sensitive sequencing applications require solutions that maximize the information output from samples where template mass and quality are limited. Watchmaker leverages novel enzyme engineering with multidimensional reaction optimization to develop DNA and RNA NGS library preparation solutions that better maintain data integrity – minimizing bias and improving sequence accuracy to ultimately increase sensitivity. The resulting solutions deliver meaningful data quality improvements, especially with challenging cfDNA, FFPE, and other low-input or degraded samples.

Katherine Miller from Nationwide Children’s Hospital will present on the value of whole transcriptome sequencing for sensitive fusion detection. Stephanie Ferguson from Inocras will discuss target enhanced whole genome sequencing to differentiate between tumor-specific alterations and inherited sequences and enhance somatic variant detection accuracy across diverse populations.