VarSeq Dx: Clinical Genomic Analysis Software for In Vitro Diagnostic Use

• Support for Cancer Gene Panels:VarSeq includes the specialized features needed for cancer workflows. Allelic ratios are automatically calculated to detect somatic mutations at low tumor fractions. Additionally, variants can be annotated precisely against several different cancer databases such as CIViC and ICGC somatic mutations. Finally, variant blacklists can be imported to filter variants that your lab has found to be inaccurate or not actionable.
• Oncogenicity Scoring: Apply the Cancer Classifier within VarSeq to easily prioritize variants for analysis within patient evaluations.
• Tumor/Normal Workflows: VarSeq provides complete support for Tumor Normal workflows. Samples can be imported as matched pairs, allowing germ line variants to be filtered out in a single step. Multiple paired samples can be imported in a single project enabling fast and accurate analysis in settings where reproducibility is critical.
• Comprehensive Cancer Workflows: : VarSeq provides workflow support for comprehensive genomic profiling kits and large cancer gene panels. Variants can be prioritized based on the presence of tumor suppressor or oncogenes genes and variant functional impact. Workflows are designed to prioritize variants for analysis within VSClinical AMP.

• Comprehensive Workflows: The VarSeq clinical stack supports all of the steps necessary to provide clinical genetic tests from the raw VCF variants to the signed out clinical report. VarSeq's flexibility allows you to customize workflows to the individual gene panel or exome test.
• Supported Genetics Tests Include: Diagnostic testing used to identify the presence or absence of causal genetic variations for specific disease , predictive and pre-symptomatic genetics tests designed to identify hereditary gene changes that can increase the lifetime risk of developing diseases, and Newborn Screening used to test babies soon after birth to identify highly penetrant variants for certain diseases known to cause problems with health and development.
• Rare Disease Diagnosis: VarSeq includes first-class support for the more complex workflows associated with discovering the causal variants of rare disease. This includes using related samples in trios and quad analysis, algorithms that detect inheritance patterns of variants, ranking of rare patheogenic variants by their relevance to the phenotype terms provided by differential diagnositics and the integration of the public and premium annotations sources.

In combination with our PhoRank algorithm, we can effectively zero in on the most relevant variants and sort them by relevance in conjunction with the phenotype.

• Partner Paired Workflow: VarSeq enables defining partner relationships during import to facilitate variant evaluation between individuals. Display partner variants side-by-side, or at a gene level, and visualize each partner's variants in Genomebrowse.
• Shared Carrier Gene Detection: Identify mutations between potential reproductive partners at a gene level for common autosomal and X-linked recessive disorders.