Some of the varSEAK highlights:
- Fast and reliable tool to manage, filter, interpret and classify genetic variants, based on a lab internal installation (varSEAK local server) which is connected to a global database and communication instance (varSEAK global server)
- Easy import of the internal SeqPilot mutation database into varSEAK local (optionally)
- Order details including the distinct variants can be transferred automatically and/or manually from SeqPilot into varSEAK local
- Detailed lab internal classification of variant in varSEAK local (including HPO-compliant phenotypes, mode of inheritance, documents, weblinks, PubMed-IDs, medical reports …)
- Connected to varSEAK global with bundled information
- Public databases (dbSNP, 1000 Genomes, ExAC, gnomAD, ClinVar, ESP, p53, UK10K, Mutation-Taster, SIFT, etc.)
- ACMG compliant classifications from other varSEAK local users
- Highly flexible and adoptable functions to filter the detected variants (phenotype, chromosomes, gene panels, classifications, AF/MAF …) with current data from varSEAK global
- Classification of variants with the functions mentioned above and further tools like Splice Site Prediction, guided ACMG classification …
- Synchronization of filters and classifications between SeqPilot and varSEAK local
- Generation of individual variant reports for each patient
- Internal communication tool to contact other users or labs that identified the same variant or variants in close genomic proximity
- Optional submission of locally classified variants to the varSEAK global database (only the following data is submitted: the identified variant, the ACMG classification class (between1-5) and the name of the lab)
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.