Report on Any Phenotype in the QIAGEN Knowledge Base
Leverage the QIAGEN Knowledge Base to filter variants on a number of annotations, including population frequency, ACMG classification, functional impact, and implication in a phenotype or disease based on curated published evidence.
Singleton and family analyses
Upload VCFs and create and annotate pedigrees.
Virtual gene panels
Review subsets of genes, including the ACMG-59 gene list and user defined gene lists.
Rank variants based on the phenotypic features in the patient.
Automated variant classification using all 28 ACMG rules
Curated content from publications and databases used to invoke all ACMG rules.
Classify variants with full transparency to evidence used.