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April 5, 2026Cancer Research

Abstract 3255: Long-read hybrid-capture based targeting of 95 known cancer genes detects large structural and complex variants with a simple bioinformatics workflow and an AI-based clinical interpretation solution

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Authors

NBNathan H. BlewettQiagen (United States)MZMegan ZaisQiagen (United States)JZJingxiao ZhangHebei Medical University

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Overview

Targeted sequencing identifies large structural variants in cancer genes, suggesting advancements in genetic diagnostics.

Key Points

  • The study aims to develop a targeted long-read sequencing panel to detect large structural variants in known cancer genes.
  • Developed the QIAseq xHYB Long Read Hereditary Cancer Panel.
  • Used enzymatic long-read fragmentation for library preparation.
  • Sequenced libraries on PacBio and Oxford Nanopore platforms.
  • Employed real-time adaptive sampling to enhance sequencing depth.
  • Analyzed sequencing data with CLC Genomics Workbench and Franklin AI platform.
  • Achieved an average coverage of 30X with PacBio sequencing and 12X with Oxford Nanopore.
  • Demonstrated greater than 95% uniformity of reads on PacBio and over 90% on Nanopore.
  • Identified expected large structural variants in reference DNA with high accuracy.
  • AI-driven analysis produced actionable clinical insights from the sequencing data.

Cite This Study

Blewett et al. (2026) studied this question.

synapsesocial.com/papers/69d1fdf7a79560c99a0a4613https://doi.org/10.1158/1538-7445.am2026-3255
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