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ConVarT: a search engine for matching human genetic variants with variants from non-human species

View ORCID ProfileMustafa S. Pir, Halil I. Bilgin, View ORCID ProfileAhmet Sayici, View ORCID ProfileFatih Coşkun, Furkan M. Torun, Pei Zhao, Yahong Kang, View ORCID ProfileSebiha Cevik, View ORCID ProfileOktay I. Kaplan
doi: https://doi.org/10.1101/2021.01.07.424951
Mustafa S. Pir
1Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Kayseri, 38090, Turkey
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Halil I. Bilgin
2Department of Computer Engineering, Abdullah Gul University, Kayseri, 38090, Turkey
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Ahmet Sayici
2Department of Computer Engineering, Abdullah Gul University, Kayseri, 38090, Turkey
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Fatih Coşkun
2Department of Computer Engineering, Abdullah Gul University, Kayseri, 38090, Turkey
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Furkan M. Torun
1Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Kayseri, 38090, Turkey
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Pei Zhao
3SunyBiotech Co., Ltd, Fuzhou 35000, China
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Yahong Kang
3SunyBiotech Co., Ltd, Fuzhou 35000, China
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Sebiha Cevik
1Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Kayseri, 38090, Turkey
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Oktay I. Kaplan
1Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Kayseri, 38090, Turkey
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  • For correspondence: [email protected]
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ABSTRACT

The availability of genetic variants, together with phenotypic annotations from model organisms, facilitates comparing these variants with equivalent variants in humans. However, existing databases and search tools do not make it easy to scan for equivalent variants, namely “matching variants” (MatchVars) between humans and other organisms. Therefore, we developed an integrated search engine called ConVarT (http://www.convart.org/) for matching variants between humans, mice, and C. elegans. ConVarT incorporates annotations (including phenotypic and pathogenic) into variants, and these previously unexploited phenotypic MatchVars from mice and C. elegans can give clues about the functional consequence of human genetic variants. Our analysis shows that many phenotypic variants in different genes from mice and C. elegans, so far, have no counterparts in humans, and thus, can be useful resources when evaluating a relationship between a new human mutation and a disease.

Competing Interest Statement

The authors have declared no competing interest.

Footnotes

  • The manuscript (abstract, etc.) and figures were revised.

  • https://github.com/thekaplanlab

  • https://www.convart.org/

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-ND 4.0 International license.
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Posted October 11, 2021.
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ConVarT: a search engine for matching human genetic variants with variants from non-human species
Mustafa S. Pir, Halil I. Bilgin, Ahmet Sayici, Fatih Coşkun, Furkan M. Torun, Pei Zhao, Yahong Kang, Sebiha Cevik, Oktay I. Kaplan
bioRxiv 2021.01.07.424951; doi: https://doi.org/10.1101/2021.01.07.424951
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ConVarT: a search engine for matching human genetic variants with variants from non-human species
Mustafa S. Pir, Halil I. Bilgin, Ahmet Sayici, Fatih Coşkun, Furkan M. Torun, Pei Zhao, Yahong Kang, Sebiha Cevik, Oktay I. Kaplan
bioRxiv 2021.01.07.424951; doi: https://doi.org/10.1101/2021.01.07.424951

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