HGMD Professional
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.
QCI Analyze
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.
Ingenuity Variant Analysis
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.
QCI Interpret
When it comes to classifying rare and complex variants, having access to as much data as possible is critical for accurately identifying and evaluating variants that could potentially contribute to the incidence of disease.
QCI Interpret is clinical decision support software that reproducibly translates highly complex next-generation sequencing (NGS) data into concise, clinician-ready reports, using current clinical evidence and all 28 criteria of the ACMG/AMP published guidelines for the assessment of variants in genes associated with Mendelian diseases.
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 the final report to include the variants, interpretations and references specified throughout the assessment.
Related Resources
QIAGEN Clinical Testing Services
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.
