Abstract 517: Comprehensive & precise structural variant detection with a single assay.
Key Points
The aim is to enhance the detection and characterization of somatic structural variants (SVs) in pancreatic ductal carcinoma using advanced sequencing technologies.
Conducted a deep benchmarking experiment on somatic SV detection across 16 whole genome sequencing technologies.
Generated Dovetail LinkPrep libraries for the HG008T pancreatic ductal carcinoma cell line.
Compared SV detection performance of HiC-Breakfinder and Dovetail Precise against the NIST Benchmark SV callset.
Dovetail Precise detected 92% of somatic SVs in the NIST Benchmark callset including small variants down to 47 bp.
HiC-Breakfinder detected only 18% of SVs, primarily limited to larger or specific types of SVs.
Dovetail's SV detection demonstrated high-resolution accurate outputs, supporting better cancer genome characterization.
Abstract
Abstract Structural variants (SVs) are increasingly recognized as key drivers of tumorigenesis, yet current technologies struggle to detect and accurately characterize them due to resolution limitations and sequencing constraints. As a result, attempts to produce complete somatic SV truth sets often suffer due to the gaps in detection performance of the sequencing technology utilized, impacting the truth sets’ usefulness for benchmarking alternative technologies and/or SV callers. To this end, the National Institute of Standards Part 1 (Regular Abstracts); 2026 Apr 17-22; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2026;86(7 Suppl):Abstract nr 517.
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Abstract 517: Comprehensive & precise structural variant detection with a single assay. | Synapse