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.VarSeq's flexibility allows you to customize workflows to the individual gene panel or exome test. 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.Workflows are designed to prioritize variants for analysis within VSClinical AMP.
Variants can be prioritized based on the presence of tumor suppressor or oncogenes genes and variant functional impact. Comprehensive Cancer Workflows: : VarSeq provides workflow support for comprehensive genomic profiling kits and large cancer gene panels.Multiple paired samples can be imported in a single project enabling fast and accurate analysis in settings where reproducibility is critical. Samples can be imported as matched pairs, allowing germ line variants to be filtered out in a single step. Tumor/Normal Workflows: VarSeq provides complete support for Tumor Normal workflows.Whole Exome and Whole Genome Analysis: VarSeq enables cutting edge cancer analysis by easily supporting whole exome and genome sized datasets.Finally, variant blacklists can be imported to filter variants that your lab has found to be inaccurate or not actionable. Additionally, variants can be annotated precisely against several different cancer databases such as CIViC and ICGC somatic mutations. Allelic ratios are automatically calculated to detect somatic mutations at low tumor fractions. Support for Cancer Gene Panels:VarSeq includes the specialized features needed for cancer workflows.
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