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.