QCI Interpret Transparency and Acceleration of Human Germ Cell Mutation Evaluation
Automated evaluation support for human germ cell mutations with high transparency; conducting extensive mutation assessments derived from WGS/WES using a high-quality knowledge base.
QIAGEN Clinical Insight (QCI) Interpret supports the rapid evaluation and scaling up of human germline variant assessments for clinical NGS testing institutions and hereditary disease research organizations. QCI Interpret utilizes various knowledge bases, including the QIAGEN Knowledge Base (QKB), which has been continuously updated through manual curation for approximately 25 years, and the global database of causative gene mutations for hereditary diseases, HGMD Professional. This underpins the high transparency of decision-making support capabilities of QCI Interpret. The vast insights and information included in QCI Interpret enable the evaluation and reporting of variants in accordance with international guidelines (such as ACMG/AMP), the presentation of supporting references, and the reduction of VUS (variants of uncertain significance). QCI Interpret simplifies, accelerates, and reduces the cost of the work that testing and research institutions undertake to derive clinical and diagnostic significance from variant information. **Features** - High transparency in variant evaluation supported by evidence - Evaluation in accordance with guidelines
- 企業：キアゲン
- 価格：Other
