Every year, 7.9 million infants are born with a serious birth defect of genetic or partially genetic origin.1
Inherited disorders affect millions of people globally, often at a very early age, with debilitating or fatal effects. There is an urgent need for better understanding of the diseases, their causes and prevalence. Next-generation sequencing (NGS) has made great strides in unraveling the underlying mechanisms of genetic-related disorders, leading to the discovery of novel disease-associated genes.
Today, multi-disease, pan-ethnic expanded carrier screening (ECS) uses NGS to probe thousands of bases per gene, detecting rare mutations and providing valuable insight into disease mutation carrier risks and rates for the global population.
ECS requires the integration of multiple workflows, an understanding of rare variants, and the ability to evaluate NGS data from large cohort samples efficiently, consistently and accurately.
The QIAseq Expanded Carrier Screening Solution features a comprehensive workflow for the identification of targets, genes and other regions of interest responsible for more than 200 disease indications. Running on any leading NGS platform, the QIAseq panel is integrated with QIAGEN’s comprehensive CLC Genomics Workbench and QIAGEN Clinical Insight (QCI)-Interpret for QIAseq to provide evidence-based, actionable insights.
Read the press release here.
QIAseq Expanded Carrier Screening Panel – NGS sequencer-agnostic solution based on QIAGEN’s proprietary single primer extension (SPE) technology and use of unique molecular indices (UMI) to deliver a digital sequencing approach that detects all mutation types, including copy number variants (CNVs) and low-frequency variants
CLC Genomics Workbench – Secondary NGS analysis package that combines quality control steps, adapter trimming, read mapping, variant detection and cascade filtering into one, scalable pipeline.
QCI-Interpret for QIAseq – Clinical research software that reproducibly translates highly complex NGS data into detailed variant reports, using current scientific evidence and expert guidelines
Find out here