QCI Interpret Translational's latest software update comes with several new features, including a new workflow for comprehensive cancer panels and greater variant coverage for labs using the GRCh38 reference genome
We are pleased to announce that the Summer 2022 Release of QCI Interpret Translational, QIAGEN’s web-based software application for the annotation, classification, and research of variants from next generation sequencing (NGS) data in genomic laboratories, is now available. Expanding on the software’s current capabilities, the QCI Interpret Translational Summer 2022 Release brings new workflows, variant content and functionality improvements.
QCI Interpret Translational is a web-based software application for the annotation, classification, and research of variants from next generation sequencing (NGS) data in genomic laboratories. Using augmented molecular intelligence and expertly curated content from the QIAGEN Knowledge Base, QCI Interpret Translational uses evidence-based approaches to automatically compute pathogenicity classifications (Pathogenic to Benign) and actionability classifications (Tier 1 to 4) for each alteration according to the 2015 professional guidelines from the American College of Medical Genetics and Association for Molecular Pathology (ACMG/AMP) [1] and the 2017 guideline from the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists (AMP/ASCO/CAP) [2], respectively.
Pathogenicity and actionability classifications in QCI Interpret Translational are accompanied by clear visibility into the criteria and evidence supporting the classifications. This workflow starts with a variant call format (VCF) file, so it is compatible with the output from any NGS platform. The final analysis is sample-specific and includes candidate causal variants, their deep annotations, interpretations, and references specified throughout the assessment process. The assessment process also has customized automation allowing for even more streamlined variant research workflows.
QCI Interpret Translational helps research labs:
Learn more about QCI Interpret Translational here.
QCI Interpret's latest software update comes with several new features, including a new workflow for comprehensive cancer panels and greater variant coverage for labs using the GRCh38 reference genome
We are pleased to announce that the Summer 2022 Release of QCI Interpret, QIAGEN’s decision support software platform for the annotation, classification, and reporting of actionable alterations from next-generation sequencing (NGS) data in clinical genomic laboratories, is now available. Expanding on the software’s current capabilities, the QCI Interpret Summer 2022 Release brings new workflows, variant content and functionality improvements.
QCI Interpret is a clinical decision support software platform for the annotation, classification, and reporting of actionable alterations from NGS data for oncology and hereditary disease applications. Using augmented molecular intelligence and expertly curated content from the QIAGEN Knowledge Base, QCI Interpret applies a rules-based approach to automatically compute pathogenicity classifications (Pathogenic to Benign) and actionability classifications (Tier 1 to 4) for each alteration according to professional guidelines from ACMG/AMP and AMP/ASCO/CAP, respectively.
Pathogenicity and actionability classifications in QCI Interpret are accompanied by clear visibility into the criteria and evidence supporting the classifications. This workflow starts with a variant call format (VCF) file, so it is compatible with the output from any NGS platform. The final report includes the alterations, interpretations, and references specified throughout the assessment process, which has customizable automation capabilities allowing for streamlined clinical decision support workflows.
Learn more about QCI Interpret for Oncology here.
Learn more about QCI Interpret for Hereditary Diseases here.
The Spring 2020 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of human inherited disease mutations to 282,895 entries–that’s 7,179 more than the previous release.
For over 30 years, HGMD Professional has been used worldwide by researchers, clinicians, diagnostic laboratories and genetic counselors as an essential tool for the annotation of next-generation sequencing (NGS) data in routine clinical and translational research. Founded and maintained by the Institute of Medical Genetics at Cardiff University, HGMD Professional provides users with a unique resource containing expert-curated mutations all backed by peer-reviewed publications where there is evidence of clinical impact.
Whether searching for an overview of known mutations associated with a particular disease, interpreting clinical test results, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository—HGMD is the defacto-standard repository for heritable mutations that can be adapted to a broad range of applications.
detailed mutation reports
new mutation entries in 2019 alone
summary reports listing all known
inherited disease mutations
HGMD is powered by a team of expert curators at Cardiff University. Data are collected weekly by a combination of manual and computerized search procedures. In excess of 250 journals are scanned for articles describing germline mutations causing human genetic disease. The required data are extracted from the original articles and augmented with the necessary supporting data.
The number of disease-associated germline mutations published per year has more than doubled in the past decade (Figure 1). As rare and novel genetic mutations continue to be uncovered, having access to the latest scientific evidence is critical for timely interpretations of next-generation sequencing (NGS) data.
View the complete HGMD Professional statistics here.
Read more about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our white paper.
HGMD Professional helps clinical testing labs analyze and annotate next-generation sequencing (NGS) data with current and trusted information. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
To get the most out of your HGMD Professional subscription, visit our Resources webpage for case studies, technical notes, and video tutorials. Or hear from Peter Stenson, manager of HGMD, in an on-demand webinar on how HGMD has empowered a generation of geneticists for precision medicine here.
Or hear from Peter Stenson, manager of HGMD, in an on-demand webinar on how HGMD has empowered a generation of geneticists for precision medicine here.
An updated version of ANNOVAR is also available.
Learn more about how ANNOVAR can be used with HGMD for variant annotation. Watch a recorded webinar featuring ANNOVAR here.
The Genome Trax™ 2020.1 is now available. Updated tracks have been released with HGMD 2020.1 content for all HGMD-related tracks. Additional major updates include TRANSFAC® release 2020.1, and PROTEOME™ release 2020.1.
For labs looking to generate clinician-grade reports for germline or somatic NGS testing, QIAGEN Clinical Insight (QCI) Interpret reproducibly translates highly complex NGS data into standardized reports using current clinical evidence from the QIAGEN Knowledge Base, which consists of over 40 public and proprietary databases, including HGMD Professional.
Click here for a free demonstration of QCI Interpret.
