July 11, 2018 | Christos Kopanos *1, Vasilis Tsiolkas *1, Alexandros Kouris1, Charles E. Chapple1, Monica Albarca Aguilera1, Richard Meyer1, and Andreas Massouras †1
VarSome is a comprehensive search engine, aggregator, and impact analysis tool for human genetic variation. It aims to centralize and facilitate the sharing of global expertise on human variants. The platform addresses the challenges of accessing diverse and fragmented data from multiple resources, particularly for novel or unknown variants. VarSome integrates information from 30 external databases, covering over 500 million variants with more than 33 billion data points. It uses MolecularDB, an efficient data warehouse, and thalia, a tool for mapping and analyzing variants, to provide detailed genomic context. The front end is built with HTML5 and JavaScript (React), while the back end is implemented in Python 3 (Django) and C++. Users can search by various identifiers, including gene names, transcript symbols, and genomic locations, and the platform supports VCF file parsing. VarSome displays variant information, including exonic structure, protein regions, and pathogenicity predictions based on ACMG guidelines. It also integrates clinically relevant data from sources like UniProt, ClinVar, and the Human Phenotype Ontology. Community contributions are encouraged, allowing users to link variants to phenotypes, diseases, and articles, and to make pathogenicity assessments. Since its launch in May 2016, VarSome has gained over 56,000 users from more than 120 countries and has been integrated into other websites and educational resources.VarSome is a comprehensive search engine, aggregator, and impact analysis tool for human genetic variation. It aims to centralize and facilitate the sharing of global expertise on human variants. The platform addresses the challenges of accessing diverse and fragmented data from multiple resources, particularly for novel or unknown variants. VarSome integrates information from 30 external databases, covering over 500 million variants with more than 33 billion data points. It uses MolecularDB, an efficient data warehouse, and thalia, a tool for mapping and analyzing variants, to provide detailed genomic context. The front end is built with HTML5 and JavaScript (React), while the back end is implemented in Python 3 (Django) and C++. Users can search by various identifiers, including gene names, transcript symbols, and genomic locations, and the platform supports VCF file parsing. VarSome displays variant information, including exonic structure, protein regions, and pathogenicity predictions based on ACMG guidelines. It also integrates clinically relevant data from sources like UniProt, ClinVar, and the Human Phenotype Ontology. Community contributions are encouraged, allowing users to link variants to phenotypes, diseases, and articles, and to make pathogenicity assessments. Since its launch in May 2016, VarSome has gained over 56,000 users from more than 120 countries and has been integrated into other websites and educational resources.