ConVarT: a search tool for orthologous variants: A method and server for functional inference of human genetic variants [article]

Mustafa S. Pir, Halil I. Bilgin, Ahmet Sayici, Fatih Coşkun, Furkan M. Torun, Pei Zhao, Yahong Kang, Sebiha Cevik, Oktay I. Kaplan
2021 bioRxiv   pre-print
AbstractThe availability of genetic variations, together with phenotypic annotations from model organisms, facilitates comparing these variants with equivalent variants. 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 ( for orthologous variants between humans, mice, and C. elegans. ConVarT
more » ... ncorporates 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.Graphical Abstract
doi:10.1101/2021.01.07.424951 fatcat:am6a5at3abbozd6nxb4yp2vtbq