Translational
Monday, June 24, 2019

New NGS panel for rare and inherited diseases with advanced bioinformatics

QIAseq Expanded Carrier Screening Panel and industry-leading software identify genetic variants responsible for more than 200 disease indications

 

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.

 

The challenge

 

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.

 

A comprehensive workflow

 

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.

 

The QIAseq Expanded Carrier Screening Solution

 

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

 

What indications does the panel cover?

Find out here

1 Health Collaborators. Diseases, Injuries, and Risk Factors in Child and Adolescent Health, 1990 to 2017: Findings From the Global Burden of Diseases, Injuries, and Risk Factors 2017 Study. JAMA Pediatrics,173(6):e190337. doi:10.1001
QIAseq Targeted DNA Panels are intended for molecular biology applications. These products are not intended for the diagnosis, prevention, or treatment of a disease. The CLC Genomics Workbench is intended for molecular biology applications. This product is not intended for the diagnosis, prevention, or treatment of a disease. QIAGEN Clinical Insight (QCI) Interpret is for Research Use Only. Not for use in diagnostic procedures.

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