Clinical and Translational

Increasing the efficiency of diagnostic odysseys

57 views
September 16, 2019
Despite rapid cost reductions in sequencing technologies and an ever-increasing understanding of genetics, it takes about five years to diagnose a child with a rare disease. The mounting adoption of whole exome sequencing (WES) is helping to bridge this gap, allowing for variations in any gene to be identified, creating more opportunities for discovering a disease-causing mutation. Yet, the prolific method generates massive datasets, placing bottleneck pressure on the downstream variant analysis and interpretation. For WES to effectively increase the diagnostic odysseys of rare, undiagnosed diseases, the supporting variant identification and classification must be equally efficient with uncompromising accuracy.

In this webinar, we present a clinical decision support solution for efficiently filtering and assessing the pathogenicity of identified variants from WES data collected from undiagnosed patient cases. QIAGEN Clinical Insight (QCI) Interpret is a secure, cloud-based ISO-certified clinical support platform designed to help labs perform tertiary sequence analysis according to guidelines set by industry experts, such as ACMG, AMP, ASCO, and CAP. Using WES data generated from two test cases, we demonstrate how the QCI Interpret platform performs variant filtering and applies phenotype-driven ranking (PDR) algorithms to highlight the variants most likely to cause the respective disease. The PDR score is based on gene-disease associations found in the QIAGEN Knowledge Base. Then, QCI computes the ACMG classifications and AMP/ASCO/CAP tier-based actionability scores for each of the variants in the filtered list. QCI bases variant classifications on the evidence obtained from multiple sources, including full-text articles and public and private databases, all of which are contained within the QIAGEN Knowledge Base. We show how users can examine all of the evidence considered in the variant classifications before generating a final report.

Reducing the number of click-outs and rapidly compiling multiple levels of manually-curated evidence from multiple search engines and databases, QCI Interpret significantly scales NGS variant analysis and interpretation, leading to shorter time to discovery.


Interested in learning more?

Click here


Speaker: Jim Hayes, PhD
Application Scientist, Clinical Products

Related videos

Clinical and Translational

Rapid and comprehensive NGS variant interpretation using web-based software

1,177 views December 12, 2018

NGS presents clinical laboratories with an ever-increasing amount of novel...

Clinical and Translational

Cancer Gene Variant Detection Using a Pre-Optimized Sample to Report Workflow

71 views October 30, 2019

BRCA1/BRCA2 genes represent the best examples for our current understanding...

Clinical and Translational

Fast tracking clinical NGS testing with QIAGEN Clinical Informatics services

69 views October 15, 2019

Discover a simpler and faster approach to implementing clinical NGS...

Clinical and Translational

Dr. Kambiz Karimi about the comprehensiveness of QIAGEN Clinical Insights

1,633 views November 20, 2017

Dr. Kambiz Karimi, Curation Manager at Counsyl, presented data as ASHG which...