Variant Interpretation Tool for Researchers

VarSome Pro is an extended version of the free VarSome designed for researchers. It features powerful functionality and further sophisticated data-mining and analysis tools, such as advanced variant filtering or annotation of whole VCF files for single and multiple samples, for gene panels, exomes and genomes.

 
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Features of VarSome Pro

Extended Version of the free VarSome

VarSome Pro is built on top of the free VarSome, which is a community-driven project aiming at sharing global expertise on human variants. VarSome features variant search engine and aggregated knowledge base consisting of more than 35 cross-referenced public data resources and contributions from its community of tens of thousands of users world-wide. ACMG classification is also available.

However, beside the free features of VarSome, with VarSome Pro you get access to powerful functionality and further sophisticated data-mining and analysis tools.

Compare VarSome Editions

Annotation of Genomic Variant Files

With VarSome Pro you can upload a VCF file containing single or multiple samples for variant annotation and interpretation. Subsequently, you can browse the results or apply dynamic or algorithmic filters to reduce your search space and efficiently reach new findings.

Please note that analysis of FASTQ files is available only in VarSome Clinical, the clinically-certified edition of VarSome for clinicians and molecular geneticists.

Sample Cross-referencing

VarSome Pro allows you to build your own database of samples and variants. You can comment on variants and set up custom variant classifications to be shared with the members of your team. You may even share variant data with your partner institutions on the condition that both parties consent.

Please note that with VarSome Clinical, the clinically-certified edition of VarSome for clinicians and molecular geneticists, you can also import your own local database with allele frequencies and use it for variant annotation and ACMG classification.

Dynamic Filters

Dynamic filters are easy to set up yet powerful filters that can be combined and stored as filter sets applicable to all new samples you may analyze in the future. You can filter variants based on allele frequency, pathogenicity, ACMG, zygosity, function or gene list, to name a few.

Algorithmic Filters

Algorithmic filters are sophisticated filters that can be fully customized according to your workflow and other specific needs. With algorithmic filters, you can perform segregation or gene list-based analysis, analyze compound heterozygous variants, identify de novo variants or variants in imprinted genes, to name a few.

Multi-sample Analysis

With VarSome Pro you can perform advanced multi-sample analysis, such as carrier risk screening for couples, analysis of tumor-normal samples, studies of trios and families or joint analyses of multiple samples.

Please note that clinical report generation is available only in VarSome Clinical, the clinically-certified edition of VarSome for clinicians and molecular geneticists.

 

Application Programming Interface (API)

VarSome Pro provides a powerful API which allows you to upload your VCF files automatically or download the resulting fully annotated VCF files. Using the general VarSome API you can integrate VarSome's knowledge base in your own workflow.

Learn more about VarSome API

Cite VarSome!

If you use VarSome for your work please cite it in your articles and all other communications.

VarSome: The Human Genomic Variant Search Engine. Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, and Andreas Massouras. Oxford Bioinformatics, bty897, 30 October 2018. doi: https://doi.org/10.1093/bioinformatics/bty897

Read the VarSome paper

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Variant interpretation tool for researchers.