VarSome Clinical accepts FASTQ and VCF. You can upload the data easily and securely through its web interface or you can harness VarSome's powerful API for an automated and secure data transfer. Once the data are uploaded, you can start the analysis! You can perform analysis for single and multiple samples, families, couples and trios, and more.
2. Choose the Pipeline
VarSome Clinical's robust pipeline is capable of analyzing whole genomes, exomes, and gene panels, for individual samples, trios, families, and cohorts in minutes. VarSome Clinical leverages the massive cross-referenced knowledge base of the free VarSome and offers also access to licensed resources. It can also leverage your private database of variants.
3. Analyze the Results
VarSome Clinical's feature-rich and intuitive web interface allows filtering variants according to pathogenicity, ACMG and AMP classification, allele frequency, gene list or phenotype, to name a few! Dynamic and algorithmic filters allow you to perform simple or advanced filtering, like segregation analysis, identification of de novo variants, and more.