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Karyon: a computational framework for the diagnosis of hybrids, aneuploids, and other non-standard architectures in genome assemblies

Miguel A. Naranjo-Ortiz, Manu Molina, Verónica Mixão, View ORCID ProfileToni Gabaldón
doi: https://doi.org/10.1101/2021.05.23.445324
Miguel A. Naranjo-Ortiz
1Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain
2Universitat Pompeu Fabra (UPF). 08003 Barcelona, Spain
3Clark University. 01610 Worcester, Massachusetts, United States of America
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Manu Molina
1Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain
2Universitat Pompeu Fabra (UPF). 08003 Barcelona, Spain
4Barcelona Supercomputing Centre (BSC-CNS). Jordi Girona, 29. 08034. Barcelona, Spain
5Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
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Verónica Mixão
1Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain
2Universitat Pompeu Fabra (UPF). 08003 Barcelona, Spain
4Barcelona Supercomputing Centre (BSC-CNS). Jordi Girona, 29. 08034. Barcelona, Spain
5Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
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Toni Gabaldón
1Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Spain
2Universitat Pompeu Fabra (UPF). 08003 Barcelona, Spain
4Barcelona Supercomputing Centre (BSC-CNS). Jordi Girona, 29. 08034. Barcelona, Spain
5Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Baldiri Reixac, 10, 08028 Barcelona, Spain
6ICREA, Pg. Lluís Companys 23, 08010 Barcelona, Spain
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  • ORCID record for Toni Gabaldón
  • For correspondence: toni.gabaldon.bcn@gmail.com
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Abstract

Recent technological developments have made genome sequencing and assembly accessible to many groups. However, the presence in sequenced organisms of certain genomic features such as high heterozygosity, polyploidy, aneuploidy, or heterokaryosis can challenge current standard assembly procedures and result in highly fragmented assemblies. Hence, we hypothesized that genome databases must contain a non-negligible fraction of low-quality assemblies that result from such type of intrinsic genomic factors. Here we present Karyon, a Python-based toolkit that uses raw sequencing data and de novo genome assembly to assess several parameters and generate informative plots to assist in the identification of non-chanonical genomic traits. Karyon includes automated de novo genome assembly and variant calling pipelines. We tested Karyon by diagnosing 35 highly fragmented publicly available assemblies from 19 different Mucorales (Fungi) species. Our results show that 6 (17%) of the assemblies presented signs of unusual genomic configurations, suggesting that these are common, at least within the Fungi.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted May 23, 2021.
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Karyon: a computational framework for the diagnosis of hybrids, aneuploids, and other non-standard architectures in genome assemblies
Miguel A. Naranjo-Ortiz, Manu Molina, Verónica Mixão, Toni Gabaldón
bioRxiv 2021.05.23.445324; doi: https://doi.org/10.1101/2021.05.23.445324
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Karyon: a computational framework for the diagnosis of hybrids, aneuploids, and other non-standard architectures in genome assemblies
Miguel A. Naranjo-Ortiz, Manu Molina, Verónica Mixão, Toni Gabaldón
bioRxiv 2021.05.23.445324; doi: https://doi.org/10.1101/2021.05.23.445324

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