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In a clinical ovarian sarcoma sample, the LinkPrep™ Assay accurately identified three distinct translocations without any false positives, supported by robust read counts (minimum read support >500). These SVs involve several oncogenes known to be linked to ovarian cancer. In contrast, WGS and RNA-seq methods fell short, detecting only two and one translocations, respectively, with minimal read support (less than 4 reads). Furthermore, these methods generated high numbers of false positives - 36 for RNA-seq and a staggering 402 for WGS - requiring extensive manual review and validation.
LinkPrep™ data excels at detecting genetic variants. At its core the LinkPrep™ assay is an NGS solution that captures primary sequence information used to detect clinically relevant SNVs, InDels, and CNVs. The unique chemistry behind the LinkPrep™ assay unlocks high sensitivity SV detection on your Illumina sequencer, even at low sequence depth.
The LinkPrep™ Service delivers an individualized genetic report that summarizes variant calls. Along with sample information, the LinkPrep™ report provides a summary at a glance, including a Circos plot and count of variants by type. More in-depth results include a list of top-ranked SNV and InDels that have been annotated with the variant effect predictor, a summary table of large structural variants, and CNV plot where gains and losses can be easily observed. The report will help guide you to genetic aberrations that are mostly likely to impactor drive the oncogenic phenotype.
