databases > DOI:10.25504/FAIRsharing.Nhfwat

ready The conserved clinical variation visualization tool

Abbreviation:ConVarT

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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 “orthologous variants,” between humans and other organisms. Therefore, we developed an integrated search engine called ConVarT (http://www.convart.org/) for orthologous variants between humans, mice, and C. elegans. ConVarT incorporates annotations (including phenotypic and pathogenic) into variants, and these previously unexploited phenotypic OrthoVars 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.




How to cite this record FAIRsharing.org: ConVarT; The conserved clinical variation visualization tool; DOI: https://doi.org/10.25504/FAIRsharing.Nhfwat; Last edited: March 10, 2021, 1:08 p.m.; Last accessed: Apr 13 2021 2:45 p.m.


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Record added: Feb. 23, 2021, 6:19 p.m.
Record updated: Feb. 25, 2021, 9:21 a.m. by The FAIRsharing Team.

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