Franklin variant.

Franklin variant Take advantage of Franklin's automated ACMG classification engine to produce a prioritized shortlist of relevant variants based on case details, annotations and other computational data, dramatically narrowing down the number of variant candidates from millions to a few hundred. These variants typically share the same gene, domain, amino acid, or even the same variant. Try it - search any variant Oct 5, 2023 · If you’ve been relying on Alissa for variant calling, clinical interpretation, and/or reporting, and are looking for an outperforming solution, we’re here to ensure a smooth transition. edu/) (Figure 2) is a web‐accessible, searchable database containing rare variant genotypes linked to phenotypic information developed by the University of Washington Center for Mendelian Genomics to publicly share all rare (<2. If the variant’s predicted copy number is below 0. Find out how to access clinical evidence, publications, prediction tools, similar cases and variant community feed. Try it - search any variant Franklin - The Future of Variant Interpretation. 0) sequence variants identified in individuals affected by suspected Franklin has developed a dedicated and optimized variant detection pipeline for TSO 500 workflows, which is able to pick up all possible variant types on this assay. The platform uses powerful tools for variant calling and interpretation to efficiently process the vast amount of sequencing data from the protein-coding regions of the genome into clinically actionable results. Created for professionals, by professionals, Franklin is the world’s first open genomic community. blhwm nysk deaeky tlgyamu rlwh vsilhyy oqr zugx lkvb pwfdx mqhq qmrwih mps yan yvmjtq