On top of that, varSEAK members can share their classifications of variants, making them available to both varSEAK users and the public. This facilitates finding evidence for rare variants and encourages worldwide collaboration between laboratories. varSEAK itself provides easy-to-use contacting options for laboratories that have detected the same or similar variants or offer their genetic expertise for a specific gene.
varSEAK is optimized to be used in combination with our sequencing analysis software SEQUENCE Pilot and therefore can be perfectly integrated into your daily workflow. Variants detected with SEQUENCE Pilot can be easily imported with one click and are automatically annotated using varSEAK's databases. Customized filter settings can be easily defined and applied to identify variants of biological impact.
Classifications according to the ACMG guidelines can be set, reviewed and equipped with details such as HPO-conform phenotypes, mode of inheritance, descriptions, attached documents, PubMed IDs and Weblinks.
Individual variant reports can be created, including descriptions and information from public databases with a single click. Consistency of analysis quality can be supervised using varSEAK's QC tools, order by order or in dynamic flow charts.
For a sneak peek, feel free to try the public access to the varSEAK database at www.varSEAK.bio
Please don't hesitate to contact us for more information and to request a free trial license at support@varSEAK.bio.
varSEAK – JSI's new Variant Database for Shared Experience and Knowledge
