QIAGEN powered by

Hereditary Cancer


Reducing the cancer burden

The early and accurate detection of mutations in hereditary cancer genes is a vital step in the `prevention, diagnosis, and management of these diseases.

QCI for Hereditary Cancer maximizes the chance of identifying disease-causing variants with streamlined workflow solutions that increase efficiency and enable
confident classification of relevant pathogenic variants according to ACMG/AMP guidelines.

QCI for Hereditary Cancer applications:

“We value QIAGEN’s commitment to deliver the highest quality of manually curated knowledge for analysis and interpretation of content through its extensive and comprehensive portfolio of solutions that enable accurate and standardized clinical reporting. Our experience of using QIAGEN’s HGMD for the 100,000 Genomes Project guided our decision to continue to rely upon this industry-leading resource.”

Dr. Augusto Rendon,
Director of Bioinformatics and Genomics England

The 100,000 Genomes Project

Evidence-based clinical offerings for hereditary cancer

QCI supports all NGS-based diagnostic tests regardless of test type or scale. Starting from either raw data or variant calls, from whole genome, exome, or panel tests, the QCI portfolio provides efficient workflows for annotating, interpreting, report generation, and sign-off.

QCI for Hereditary Cancer workflow solutions


Secondary NGS Data Analysis

Variant Filtering

Variant Interpretation and Reporting

Clinical Testing Services

HGMD Professional

Solve more cases faster, with data you can trust using HGMD Professional, the de facto standard resource for identifying inherited disease-causing mutations.

Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1993, HGMD Professional contains over 260,000 manually curated mutation reports from over 2,600 peer-reviewed journals. Updated quarterly, HGMD Professional is licensed exclusively through QIAGEN and offers clinical research labs pipeline access to the latest reports of all published inherited disease mutations.

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QCI Analyze

Simplify and standardize the processing and analysis of NGS data with QIAGEN Clinical Insight (QCI®) Analyze, scalable software fueled by powerful algorithms to seamlessly convert FASTQ files to high quality variant lists.

Compatible with all major sequencing platforms, QCI Analyze efficiently converts FASTQ files to VCF files through preconfigured, comprehensive and scalable pipelines controlled by role-based permissions. The software uses powerful, globally recognized algorithms to pinpoint even the most difficult-to-detect variants and fusions.

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Ingenuity Variant Analysis

Quickly prioritize variants with Ingenuity Variant Analysis, a web-based application combining analytical tools and expert-curated content from the QIAGEN Knowledge Base to help you filter down to a small, targeted subset of compelling candidates.

Connected to the industry’s most expansive collection of biological and clinical findings, sourced from over two decades of manual data and literature curation from more than 40 scientific and clinical databases, Ingenuity Variant Analysis leverages powerful algorithms and dynamic filtering to triage variants using both published evidence and your lab’s own experiential knowledge.

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QCI Interpret

Clinical decision support software integrated with the industry’s largest knowledge base, QCI Interpret reproducibly translates highly complex next-generation sequencing (NGS) data into concise, clinician-ready reports, using current clinical evidence and automated guidelines from AMP/ASCO/CAP and NCCN for the assessment of sequence variants in cancer.

Connected to the QIAGEN Knowledge Base, a continuously updated and manually curated resource spanning across 40 public and proprietary databases, QCI Interpret empowers your lab with the insight only two decades of expert curation can deliver.

The software provides full transparency to review the criteria and evidence supporting each classification and allows you to customize an actionable report from the latest scientific literature, clinical trials and approved drug labels.

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QIAGEN Clinical Testing Services

Accelerate time to launch with clinical testing and informatics services focused on expanding and differentiating your test menu.

QIAGEN Clinical Testing Services deliver complete end-to-end testing solutions, fully customizable and capable of supporting a broad range of indications both now and in the future.

  • On-demand variant scoring and classification services Launch new test offerings faster while scaling your existing variant scientist team.
  • Customized reporting solutions Provide unique and differentiated report layouts for brand recognition.
  • Pipeline development and optimization Rely on one partner to monitor, develop and train your bioinformatics team.

Interested in our
hereditary cancer
clinical testing solutions?

Request a consultation with one of our clinical informatics specialists to learn more about QCI for Hereditary Cancer and how the solution can be customized to support your current sequencing platform and unique assay.

Rare & Undiagnosed Diseases

Shorten the diagnostic odyssey with QCI for Rare and Undiagnosed Diseases

Inherited Diseases

Provide trusted insight today to empower tomorrow’s decisions with QCI for Inherited Diseases.

Clinical Testing Services

Customize, manage and scale your precision medicine program with QIAGEN Clinical Testing Services.