ArticleNucleic acids research2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 30 citations in OpenAlex.
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- UtilizingJournal of developmental biology · 2025Review
- CilioGenics: an integrated method and database for predicting novel ciliary genes.Nucleic acids research · 2024Article
- Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- High-throughput assays to assess variant effects on disease.Disease models & mechanisms · 2024Article
- Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.Frontiers in veterinary science · 2024Article
- Matching variants for functional characterization of genetic variants.G3 (Bethesda, Md.) · 2023Article
- Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1Journal of cellular and molecular medicine · 2023Article
- CiliaMiner: an integrated database for ciliopathy genes and ciliopathies.Database : the journal of biological databases and curation · 2023Article
- Article
- Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.Molecular aspects of medicine · 2023Review
- Caenorhabditis elegans for research on cancer hallmarks.Disease models & mechanisms · 2023Article
- mutscan-a flexible R package for efficient end-to-end analysis of multiplexed assays of variant effect data.Genome biology · 2023Article
- The conservation of human functional variants and their effects across livestock species.Communications biology · 2022Article
- The 2022 Nucleic Acids Research database issue and the online molecular biology database collection.Nucleic acids research · 2022Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 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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