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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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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. |
format | Online Article Text |
id | pubmed-8728286 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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