ConVarT: a search engine for matching human genetic variants with variants from non-human species
Author(s) -
Mustafa S Pir,
Halil Bilgin,
Ahmet Sayıcı,
Fatih Coşkun,
Furkan M. Torun,
Pei Zhao,
Yahong Kang,
Sebiha Cevik,
Oktay I. Kaplan
Publication year - 2021
Publication title -
nucleic acids research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 9.008
H-Index - 537
eISSN - 1362-4954
pISSN - 0305-1048
DOI - 10.1093/nar/gkab939
Subject(s) - biology , caenorhabditis elegans , phenotype , genetics , gene , genetic variants , computational biology , model organism , human disease , mutation , caenorhabditis , genotype
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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