GeneTalk is a web-based platform, tool, and database, for filtering, reduction and prioritization of human sequence variants from next-generation sequencing (NGS) data. GeneTalk allows editing annotation about sequence variants and build up a crowd sourced database with clinically relevant information for diagnostics of genetic disorders. GeneTalk allows searching for information about specific sequence variants and connects to experts on variants that are potentially disease-relevant.

Application to diagnostics

Users can upload NGS data in Variant Call Format (VCF) onto the GeneTalk server into their accounts. All entries of the file are preprocessed and shown in the integrated VCF viewer. Filtering tools are set by the user to reduce the number of clinically non-relevant variants. After filtering and prioritization users can interpret relevant variants by retrieving information (annotations) about variants from the GeneTalk database. The communication platform allow users to contact experts about specific variants, genes, or genetic disorders, to exchange knowledge and expertise.


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