GeneTalk is a web-based platform, tool, and database for filtering, reduction and prioritization of human sequence variants from next-generation sequencing (NGS) data.[1][2] GeneTalk allows editing annotation about sequence variants and build up a crowd sourced database with clinically relevant information for diagnosticsofgenetic disorders. GeneTalk allows searching for information about specific sequence variants and connects to experts on variants that are potentially disease-relevant.
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.
Steps required to analyze VCF files
The following filtering options may be used to reduce the non-relevant sequence variants in VCF files.
Users can share VCF files with colleagues and coworkers. The integrated mailing systems allows users to contact experts easily. Users can create annotations and comments and rate annotations regarding medical relevance and scientific evidence, that is helpful for the community of users for diagnosis of genetic disorders. Registered users provide information about their field of knowledge in their profile and can be contacted by other users.