On the sixth day of OpenCRAVAT, we’re highlighting six essential tools that transform your genomic data into actionable insights. These tools are designed to help researchers evaluate the functional impact of genetic variants with precision and reliability.
1️⃣ CHASMplus: Pinpoint cancer driver mutations with this powerful tool, specifically designed to differentiate between drivers and passengers in tumor development. It’s an invaluable asset for cancer researchers. Learn more about CHASMplus here.
2️⃣ REVEL: This tool predicts the pathogenicity of rare missense variants by integrating multiple scores into a single, comprehensive metric. Perfect for clinical researchers and diagnosticians. Explore REVEL here.
3️⃣ PolyPhen-2: Assess the structural and functional impacts of amino acid changes caused by missense mutations. This tool helps you identify damaging mutations quickly and effectively. Discover PolyPhen-2.
4️⃣ gnomAD: Understand population-level variant frequencies with data from the Genome Aggregation Database. This resource is key for identifying rare variants. Visit gnomAD.
5️⃣ ClinVar: Access clinical classifications for your variants with links to supporting evidence. ClinVar is a cornerstone of clinical variant interpretation. Search ClinVar.
6️⃣ COSMIC: Investigate somatic mutations in cancer with data from the Catalogue of Somatic Mutations in Cancer. Explore COSMIC.
Each of these tools is seamlessly integrated into OpenCRAVAT, giving you access to cutting-edge resources without the need to juggle multiple platforms. Whether you’re researching cancer, rare diseases, or population genetics, these tools can provide critical insights.
Ready to explore these powerful tools in your own analysis?
👉 Start with OpenCRAVAT
