Features
- Transparent, evidence-based variant classification
- Focused on actionable content from drug-labels and clinical trials to accelerate clinical research insights
- Accesses manually curated clinical case counts and biological studies
- Outputs clear, concise, referenced reports
- Option to build your own private, experience-based database to increase speed and accuracy of subsequent interpretations
Product Details
QCI Interpret is clinical research interpretation and reporting software designed specifically for laboratories assessing next-generation sequencing (NGS) data. With QCI Interpret you can annotate, assess and report NGS variants in the context of over 10 million relevant biomedical findings from the QIAGEN Knowledge Base, leveraging the experience of over 16+ years in manual curation. QCI Interpret allows you to minimize the complexity, time and cost associated with determining the potential significance of NGS variants to your research.
Principle
QCI Interpret is a web-based software application for the annotation, classification, and reporting of variants from next-generation sequencing (NGS) data in clinical research genomics laboratories. It provides reference support in the form of bibliographic literature citations across clinically relevant studies and data sets that contain the same variant of interest. QCI Interpret uses a rules-based approach to suggest classifications of variants according to professional guidelines such as ASCO, ACMG, CAP, and AMP, to support interpretation and reporting. This workflow starts with a variant call format (VCF) file, so it is compatible with output from any NGS platform including the GeneReader NGS System and the QCI Analyze data analysis pipelines. The final report is customizable to include the variants and references you select along with the interpretations you specify.
Procedure
Creation of a Test
QCI Interpret is the last step in your NGS workflow allowing for the interpretation and reporting of the variants in your test. Begin your analysis by uploading your variant (VCF) file and choosing the type of test you would like to run, either somatic or hereditary cancer.
Exploring the Variant List
The variant list provides an overview of your test as well as all the variants present after the data analysis. Information coming from the QIAGEN Knowledge Base (published literature and databases) is provided. The variant information includes the nucleotide change (based upon HGVS standard nomenclature2) and the location of the variant. It also provides information about the location of the change in the corresponding protein and details of any predicted amino acid substitution. Further variant information such as genotype, somatic frequency, population frequency, allele fraction, and impact are also displayed according to the test type.
Exploring the Variant Detail
These sections cover a variety of details on the selected variant such as effect on protein and isoform, laboratory observation, treatments and clinical trials, reported clinical cases, and different biochemical impact information.
Treatment and Trial Information
The treatments section displays a table showing any treatments associated with the variant. The evidence column indicates the type of evidence from the QIAGEN Knowledge Base. The evidence level for displaying treatment information and selection of the indications for which treatments are displayed can be specified in one of four evidence levels: 1) Exact variant 2) All at this position 3) Gain of function/Loss of function in gene 4) Gene positive.
The clinical trials section displays a table showing currently enrolling clinical research studies using pharmaceutical agents to treat this variant. In addition to showing the names of the drugs and evidence, it also displays the title of the study, the location in which the study is taking place, the phase of the trial and a link to references to the clinical trial.
Review and Report
The review and report features in QCI Interpret provide you with the key details of the variants found in the clinical research sample. While viewing the variant details, you can select the information that you would like to display on the report. It is driven by the most pathogenic variant in the sample. The other sections including reported variants, treatments associated with reportable variants, and references, all show information that you selected to display in the report.
Applications
QCI Interpret is a web-based interpretation and reporting software for the tertiary analysis of variants from next-generation sequencing data.
Resources
Safety Data Sheets (1)