Full Exon Coverage of the TP53 Tumor Suppressor Gene
HOW DOES IT WORK?
Swift Amplicon targeted panels facilitate the generation of NGS data for oncology and disease research by enriching and sequencing genes of interest from challenging samples in a cost-effective manner. Following sequencing, the data generated must be computationally aligned to a reference genome and variant calling performed to assess the status of genetic mutations, insertions, and deletions present in the sample. With the VarSome platform from Saphetor, users of Swift Amplicon panels can simply upload their sequencing FASTQ or VCF files into the secure cloud-based VarSome platform and leverage the rich set of features available to analyze and annotate the resulting data.
HOW DOES IT WORK?
(1) Add a Varsome token (AL-VS48) to your order. In order to process data from 48 samples. Ask about a demo of the software and evaluation specials!
(2) Upload FASTQ or VCF file. VarSome accepts FASTQ and VCF files as single samples or in batches. You can upload the data easily and securely through the web interface or harness VarSome’s powerful API for automated and secure data transfer. Once the data are uploaded, you can start the analysis!
(3) Annotate and Classify. The robust pipeline is capable of analyzing whole genomes, exomes, and gene panels, for individual samples, trios, families, and cohorts in minutes. VarSome leverages the massive cross-referenced knowledge base of the free VarSome and also offers access to licensed databases.
(4) Explore the Intuitive Web Portal. VarSome Clinical’s feature-rich and intuitive web interface allows filtering variants according to pathogenicity, ACMG 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 or variants in imprinted genes, and much more!
(5) Generate Reports. Once you have narrowed down the list of variants of interest, you can proceed with the generation of a PDF report, which includes all the details of your variants, including liter