Yesterday, our VP of Product and Engineering, Gabe Rudy, presented VSReports to the Golden Helix community for the first time in a live webcast; Authoring Clinical Reports in VarSeq. It was an excellent presentation. Gabe highlighted VSReports’ ability to take the output of tertiary analysis to a customized clinical grade report in one click. He also gave an overview of how our customers implement VarSeq in clinical testing workflows as well as recent updates to VarSeq. Here are a few of the key takeaways:

1) Coverage statistics are now available in VarSeq! Coverage analysis is an industry best practice analyzing NGS data in the clinic. It informs the clinician that a particular region of interest is adequately covered by the sequencing process. Consequently, this statistic ensures that the data being analyzed is of high enough quality to support the test results being returned to the physician. Coverage analysis confirms that a called variants is in fact real. It also ensures no variants went undetected in tested regions due to an inadequate number of reads. These are the statistics generated:

• Average depth of coverage
• Minimum read depth
• Maximum read depth
• Percent of bases in a region meeting different coverage thresholds

2) The reports generated by VSReports are based on ACMG guidelines.

3) VSReports includes templates for both hereditary and cancer analysis, free of charge. Additionally, we are happy to work with you to design templates specific to your needs.

4) The OMIM annotation source is deeply integrated into VSReports and will be included free of charge. With the careful curation of the OMIM resource at the phenotype, gene and variant level, the following descriptive and filterable data points will be joinable to your imported variants:

• Functional description of genes and phenotypes ready for physicians to orient themselves
• Lists of phenotypes linked to genes with supporting evidence and modes of inheritance of the phenotype (autosomal dominant, etc.)
• Paper references with relevant PubMed and direct URL Links to clinical relevant genetic resources such as testing guidelines, ontology and gene test registries
• Descriptive interpretations for variants curated from published papers with family and disease context

Introductory offers will be provided through the month of October which includes a 15 month license for the price of a 12 month license. If you would like the full details on our promotional pricing or if you would like to take a closer look at VSReports, please visit our website to request pricing.