ConVarT: a search engine for matching human genetic variants with variants from non-human species
| Autor: | Pei Zhao, Fatih Coşkun, Yahong Kang, Sebiha Cevik, Halil I. Bilgin, Ahmet Sayici, Furkan M. Torun, Mustafa S. Pir, Oktay I. Kaplan |
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| Přispěvatelé: | AGÜ, Mühendislik Fakültesi, Bilgisayar Mühendisliği Bölümü, Pİr, Mustafa, Bilgin, Halil İbrahim, Sayıcı, Ahmet, Coşkun, Fatih, Torun, Furkan M., Çevik, Sebiha, Kaplan, Oktay İsmail |
| Rok vydání: | 2021 |
| Předmět: |
Matching (statistics)
AcademicSubjects/SCI00010 ved/biology.organism_classification_rank.species Inference Computational biology Databases Mice Search engine Genetic Databases Genetic Genetics Animals Humans Database Issue Caenorhabditis elegans Model organism Gene biology ved/biology Genetic variants Genetic Variation biology.organism_classification Phenotype Search Engine Mutation (genetic algorithm) Software |
| Zdroj: | Nucleic Acids Research |
| ISSN: | 1362-4962 0305-1048 |
| Popis: | 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, andC. elegans. ConVarT incorporates annotations (including phenotypic and pathogenic) into variants, and these previously unexploited phenotypic MatchVars from mice andC. eleganscan give clues about the functional consequence of human genetic variants. Our analysis shows that many phenotypic variants in different genes from mice andC. 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. |
| Databáze: | OpenAIRE |
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