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Detecting Small Inversions Using SRinversion

  • Ruoyan ChenEmail author
  • Yu Lung Lau
  • Wanling Yang
Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1833)

Abstract

Rapid development of next generation sequencing (NGS) technology has substantially improved our ability to detect genomic variations. However, unlike other variations, such as point mutations, insertions, and deletions, which can be identified in high sensitivities and specificities based on NGS reads, most of inversions, especially those shorter than 1 kb, remain difficult to detect. Here we introduce a new framework, SRinversion, which was developed specifically for detection of inversions shorter than 1 kb by splitting and realigning poorly mapped or unmapped reads of the NGS data.

Key words

Short inversion detection NGS Structural variations Split reads method 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Paediatrics and Adolescent Medicine, LKS Faculty of MedicineThe University of Hong KongPokfulamHong Kong

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