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Next-generation sequencing (NGS) has revolutionized clinical genomics, enhancing structural variant (SV) analysis, especially found in chromothripsis. This guide focuses on key steps of SV interpretation using IGV, detailing methods for assessing SV veracity and distinguishing true SVs from artifacts. This resource aims to aid clinicians and researchers in effectively interpreting NGS-derived SV calling data to improve diagnostic accuracy and patient care.

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Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV)

  • 实验方案

  • 发表日期：

    2025年

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  • Benjamin Ganne,
  • Clément Hersent,
  • Vincent Gatinois,
  • Franck Pellestor,
  • Kevin Yauy

摘要

Next-generation sequencing (NGS) has revolutionized clinical genomics, enhancing structural variant (SV) analysis, especially found in chromothripsis. This guide focuses on key steps of SV interpretation using IGV, detailing methods for assessing SV veracity and distinguishing true SVs from artifacts. This resource aims to aid clinicians and researchers in effectively interpreting NGS-derived SV calling data to improve diagnostic accuracy and patient care.