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A pipeline for complete characterization of complex germline rearrangements from long DNA reads

Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpoints, to know the pathogenicity of the rearrangements.

Date: 31 July 2020



Many genetic/genomic disorders are caused by genomic rearrangements. Standard methods can often characterize these variations only partly, e.g., copy number changes or breakpoints. It is important to fully understand the order and orientation of rearranged fragments, with precise breakpoints, to know the pathogenicity of the rearrangements.

We performed whole-genome-coverage nanopore sequencing of long DNA reads from four patients with chromosomal translocations. We identified rearrangements relative to a reference human genome, subtracted rearrangements shared by any of 33 control individuals, and determined the order and orientation of rearranged fragments, with our newly developed analysis pipeline.
 

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Naomichi MATSUMOTO

  • Professor
    Department of Human Genetics,
    Yokohama City University Graduate School of Medicine

    Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004 JAPAN
  • naomat@yokohama-cu.ac.jp