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Structural variants are of major importance in cancer genetics. Especially when it comes to the detection of complex structural variants as in chromoanagenesis, detection tools like array-CGH, karyotyping, or even whole-genome sequencing do not provide the necessary resolution and/or accuracy. Here, we present a novel structural variant (SV) detection workflow that integrates genomic DNA (gDNA) long-read sequencing and Hi-C sequencing. With this workflow, high-confident SV calling at very high resolution can be archived. Applying it to a cohort of acute myeloid leukemia (AML) with a complex karyotype led to new insights about the actual complexity of chromoanagenesis and can enhance subsequent functional studies of the underlying pathomechanisms.

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Combination of Long-Read Sequencing and Hi-C Technology to Identify Chromoanagenesis Events in Cancer

  • 实验方案

  • 发表日期：

    2025年

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  • Marius-Konstantin Klever,
  • Julius Jungnitsch,
  • Lars Bullinger

摘要

Structural variants are of major importance in cancer genetics. Especially when it comes to the detection of complex structural variants as in chromoanagenesis, detection tools like array-CGH, karyotyping, or even whole-genome sequencing do not provide the necessary resolution and/or accuracy. Here, we present a novel structural variant (SV) detection workflow that integrates genomic DNA (gDNA) long-read sequencing and Hi-C sequencing. With this workflow, high-confident SV calling at very high resolution can be archived. Applying it to a cohort of acute myeloid leukemia (AML) with a complex karyotype led to new insights about the actual complexity of chromoanagenesis and can enhance subsequent functional studies of the underlying pathomechanisms.