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The QCI Interpret difference

World's Largest Knowledge Base

Built over 2 decades, the QIAGEN Knowledge Base is the world’s largest collection of biological and clinical findings certified by expert curation.
Encompassing 40+ databases and maintained by hundreds of certified PhD-level curators who enter 46,000+ new findings weekly, the QIAGEN Knowledge Base is continuously updated to contain the latest evidence from peer-reviewed papers, clinical and functional studies, drug labels, and professional guidelines.

Powered by Augmented Molecular Intelligence, the QIAGEN Knowledge Base is built on our own comprehensive ontology that uniformly models relationships between different entities, such as relationships between a variant, a gene, and observed phenotype.

Phenotype Network Analysis

The Phenotype Network allows users to input symptoms relevant to a case and receive relationships to candidate diseases and mutated genes.
The Phenotype Network feature provides a diagram of inferred, content-driven, relationships between a mutated gene, symptoms observed, and a candidate disease.

This feature uses the disease models from the QIAGEN Knowledge Base to expand from the symptoms provided that are relevant for the case to a disease which may be diagnosed based on any of the symptoms in the context of the mutated gene implicated in the disease.

CNV Interpretation Support

Quickly evaluate copy number variants (CNVs) to determine if the same/similar CNVs have been observed in clinical cases or as common genetic variants.
Better assess the physical structure, functional impact, and clinical relevance of CNVs and gene fusions detected in NGS secondary analysis pipelines.

The software provides bibliographic coverage of over 60,000 CNV case reports with filters to match by overlap, auto-classification of CNV pathogenicity using the new ACMG/ClinGen CNV guidelines for hereditary workflows, population allele frequency data for CNVs, and improved handling of CNVs and splice variants at the exon- and breakpoint-levels.

HGMD Professional

Unique to QCI Interpret is access to HGMD Professional, the gold standard resource for comprehensive human hereditary disease mutation data, licensed exclusively through QIAGEN.
Unlike new machine learning or artificial intelligence platforms that rapidly index millions of journal articles for mutations, HGMD Professional leverages human judgement and expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy, relevance, and context.

Founded and maintained by the Institute of Medical Genetics at Cardiff University, HGMD Professional contains over 352,000 detailed reports on individual gene variants, with over 45,000 new reports added in 2021 alone.

Computed ACMG/AMP Classifications

Proprietary algorithms dynamically and transparently compute ACMG/AMP classifications for every variant in the uploaded VCF file.
QCI Interpret for Hereditary Diseases can provide evidence to trigger all 28 criteria of the ACMG/AMP variant interpretation guidelines.

Once a VCF file has been uploaded to the software, within seconds, QCI Interpret returns evidence categorized into one of the 28 defined criteria set forth by the ACMG/AMP guidlines and assigns a calculated strength of the evidence.

Users can then view each piece of evidence used in the assessment through clickable hyperlinks that show the full article—not the abstract.

Enhanced Exome Support

Rapidly prioritize variants through an Interactive Filter Cascade that identifies variants impacting symptoms, pathways, and genes implicated in drug response or disease progression.
A list of gene variants can be drilled down to those most relevant to the patient test case by defining a series of filters that reflect the most important selection criteria.

The customizable Interactive Filter Cascade offers 5 different filters that prioritize variants by biological relevance, phenotype associations, and incidence in cancer, kindred, proband, and cohort studies.
Sample to Insight