- Analyses are currently limited to single sample analyses. Multi-sample analyses are in development.
- Input file size is limited to ~100mb for now.
- Input files must be .vcf or .vcf.gz version 4.1 or later; reference genomes hg19 (GRCh37) and GRCh38 are supported.
- Supported filters include by quality, read depth, genomic region, variant class, predicted effect, clinical significance, and impact score.
- Filter combinations may be saved as “Presets” for later use with new data sets.
- Detailed variant view includes links to: iBioGuide, dbSNP, OMIM, MedGen, PubMed, and more.
- View variants in context of impacted pathways. Pathway view highlights affected genes and provides ability to model miRNAs and drugs.
- View variants in relation to GO terms. Navigate upstream and downstream to identify specific ontology terms.
- Share reports with individuals or publicly.