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

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’ (Matc...

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Autores principales: Pir, Mustafa S, Bilgin, Halil I, Sayici, Ahmet, Coşkun, Fatih, Torun, Furkan M, Zhao, Pei, Kang, Yahong, Cevik, Sebiha, Kaplan, Oktay I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728286/
https://www.ncbi.nlm.nih.gov/pubmed/34718716
http://dx.doi.org/10.1093/nar/gkab939
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author Pir, Mustafa S
Bilgin, Halil I
Sayici, Ahmet
Coşkun, Fatih
Torun, Furkan M
Zhao, Pei
Kang, Yahong
Cevik, Sebiha
Kaplan, Oktay I
author_facet Pir, Mustafa S
Bilgin, Halil I
Sayici, Ahmet
Coşkun, Fatih
Torun, Furkan M
Zhao, Pei
Kang, Yahong
Cevik, Sebiha
Kaplan, Oktay I
author_sort Pir, Mustafa S
collection PubMed
description 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 Caenorhabditis 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.
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spelling pubmed-87282862022-01-05 ConVarT: a search engine for matching human genetic variants with variants from non-human species Pir, Mustafa S Bilgin, Halil I Sayici, Ahmet Coşkun, Fatih Torun, Furkan M Zhao, Pei Kang, Yahong Cevik, Sebiha Kaplan, Oktay I Nucleic Acids Res Database Issue 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 Caenorhabditis 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. Oxford University Press 2021-10-28 /pmc/articles/PMC8728286/ /pubmed/34718716 http://dx.doi.org/10.1093/nar/gkab939 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Pir, Mustafa S
Bilgin, Halil I
Sayici, Ahmet
Coşkun, Fatih
Torun, Furkan M
Zhao, Pei
Kang, Yahong
Cevik, Sebiha
Kaplan, Oktay I
ConVarT: a search engine for matching human genetic variants with variants from non-human species
title ConVarT: a search engine for matching human genetic variants with variants from non-human species
title_full ConVarT: a search engine for matching human genetic variants with variants from non-human species
title_fullStr ConVarT: a search engine for matching human genetic variants with variants from non-human species
title_full_unstemmed ConVarT: a search engine for matching human genetic variants with variants from non-human species
title_short ConVarT: a search engine for matching human genetic variants with variants from non-human species
title_sort convart: a search engine for matching human genetic variants with variants from non-human species
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8728286/
https://www.ncbi.nlm.nih.gov/pubmed/34718716
http://dx.doi.org/10.1093/nar/gkab939
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