QCI Interpret for

Whole Exome

 

Find answers to complex diagnoses

 
 

 

 

Why whole exome testing?

  • Assess 180,000 exons across more than 20,000 genes  in one test.

  • Major clinical utility: provide answers to patients with undiagnosed diseases.

  • Enable the diagnosis of complex phenotypes through an unbiased and complete genetic analysis.

 

 


Launch a separate pipeline with support for associating phenotypic and clinical meta data


Report on Any Phenotype in the QIAGEN Knowledge Base

 

Variant filtering
Leverage the QIAGEN Knowledge Base to filter variants on a number of annotations, including population frequency, ACMG classification, functional impact, and implication in a phenotype or disease based on curated published evidence.
Singleton and family analyses
Upload VCFs and create and annotate pedigrees (through integrated PhenoTips pedigree drawing tool).
Virtual gene panels
Review subsets of genes, including the ACMG-59 gene list and user defined gene lists.

Phenotype-driven ranking
Rank variants based on the phenotypic features in the patient.
Automated variant classification using all 28 ACMG rules
Curated content from publications and databases used to invoke all ACMG rules.
Classify variants with full transparency to evidence used.


Automated classification with full transparency to supporting evidence.


 
 
 

Try QCI Interpret for Whole Exome

Request your free, no obligation, demonstration of QCI Interpret for Whole Exome today.

 

 
 

*QIAGEN Clinical Insight (QCI) is an evidence-based decision support software intended as an aid in the interpretation of variants observed in genomic sequencing data. The software evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels, and clinical-trials. Based on this evaluation, the software proposes a classification to aid in the interpretation of observed variants. The software is NOT intended as a primary diagnostic tool by physicians or to be used as a substitute for professional healthcare advice. Each laboratory is responsible for ensuring compliance with applicable international, national, and local clinical laboratory regulations and other specific accreditations requirements.

© QIAGEN 2018. All rights reserved - Trademarks & Disclaimers