© 2019, Genomnis

Ability to analyse large VCF files

The HSF professional system was specifically designed to handle NGS data both from small, medium or large gene panels including WES/WGS. To do so, it precomputed the impact of mutations on splicing signals and stored results in the HSF database.

The user can access mutations either one-by-one (using credits from the e-commerce) or by a handful through the website (using credits from the e-commerce or an annual license) of by directly submitting a VCF file through an API (requires an annual license). The result is provided as a JSON format in order to be implemented in any local pipeline. Depending on the server load and the mutation type, the speed can reach 10,000 mutations/s.

Access to HSF predictions using the website. Various interactive tables allow the access to predictions.