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Practical guide for obtaining and validating chromosome-scale genome assemblies with Hi-C scaffolding
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  • Kazuaki Yamaguchi,
  • Mitsutaka Kadota,
  • Osamu Nishimura,
  • Yuta Ohishi,
  • Yuki Naito,
  • Shigehiro Kuraku
Kazuaki Yamaguchi
RIKEN Center for Biosystems Dynamics Research

Corresponding Author:[email protected]

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Mitsutaka Kadota
RIKEN Center for Biosystems Dynamics Research
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Osamu Nishimura
RIKEN Center for Biosystems Dynamics Research
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Yuta Ohishi
RIKEN Center for Biosystems Dynamics Research
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Yuki Naito
Database Center for Life Science
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Shigehiro Kuraku
RIKEN Center for Biosystems Dynamics Research
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Abstract

Recent development of ecological studies has been fueled by the introduction of massive information based on chromosome-scale genome sequences, even for species whose genetic linkage was previously not accessible. This was enabled mainly by the application of Hi-C, a method for genome-wide chromosome conformation capture which was originally developed for investigating long-range interaction of chromatins. Performing genomic scaffolding using Hi-C data is highly resource-demanding in elaborate laboratory steps for sequencing sample preparation, building primary genome sequence assembly as an input, and computation for genome scaffolding using Hi-C data, followed by careful validation. This article summarizes existing solutions for these steps and provides a test case of its application to a reptile species, the Madagascar ground gecko (Paroedura picta). Among frequently exerted metrics for evaluating scaffolding results, we investigate the validity of completeness assessment using single-copy reference orthologs and report problems with the widely used program pipeline BUSCO.