Next-generation sequencing (NGS) has transformed the field of genetic testing, enabling rapid and cost-effective identification of genetic variants associated with inherited diseases. QIAGEN's new groundbreaking Sample to Insight solutions for inherited diseases combine hybrid-capture panels, the fastest and cheapest secondary analysis in the market, and trusted variant interpretation and reporting software powered by augmented molecular intelligence.
Sample to Insight Workflow for Inherited Disorders:
The QIAseq xHYB portfolio consists of multiple large panels targeting genomic regions with known relevant genomic variants. The content has been built by leveraging variant information from the Human Gene Mutation Database (HGMD) and delivers high coverage of regions in over 10,000 genes. Optimized probe design provides efficient coverage of even the most challenging genomic regions, such as high GC-content regions.
LightSpeed is a new module for QIAGEN CLC Genomics Workbench Premium that empowers laboratories to perform NGS secondary analysis with high accuracy at unprecedented runtimes.
LightSpeed processes FASTQ files to produce VCF files containing single nucleotide variants (SNV), insertion–deletion mutation (InDel) and structural variant (SV) calls. The module is deployable using local computers or Amazon Web Services (AWS®) cloud and performs quality and adapter trimming, read mapping, deduplication, local realignment, quality control and variant calling.
QCI Interpret is NGS variant interpretation and reporting software powered by augmented molecular intelligence that helps labs not only make faster decisions—but the right decisions.
Connected to the exclusive QIAGEN Knowledge Base, the industry’s most comprehensive, manually curated resource updated weekly, QCI Interpret delivers variant-specific, scientific evidence in context of phenotype or diagnosis. Interactive filters prioritize variants and proprietary algorithms transparently compute ACMG/AMP variant classifications, enabling users to generate evidence-based reports with efficiency, confidence, and reproducibility.
Let us help you optimize your NGS analysis pipeline. Our services team is here to answer your questions and help you get from sample to final report in less time, for less money.
