Category Archives: Learn more about GHI software

Variant Interpretation with VSClinical: Evaluation of an X-linked recessive mutation

Overview VSClinical enables users to evaluate variants according to the ACMG guidelines in a high-throughput fashion and obtain consistent results and accurate variant interpretations. This feature is tightly integrated into our VarSeq platform as well, and when paired together, users can evaluate NGS data and obtain clinical reports all in one suite. Coupled with the ability to find novel or… Read more »

VarSeq PhoRank Part: 2 Sample PhoRank Gene Ranking

The PhoRank tool in VarSeq is further explored in this post by looking at the sample-specific capability. VarSeq PhoRank Part: 1 Variant Phorank Gene Ranking showed how the PhoRank algorithm could be applied to all the variants in a VarSeq project, regardless of the number of (or difference in) samples. There is another PhoRank algorithm in VarSeq that allows the… Read more »

VarSeq PhoRank Part 1: Variant PhoRank Gene Ranking

One of the main goals of clinical genomic labs is to identify problematic variants in affected individuals. One tool to assist in this search is the phenotype driven variant ontological re-ranking tool in VarSeq called PhoRank. A common situation facing clinicians is sorting through thousands of variants provided by an individual’s exome data (or possibly the individual’s nuclear family exome… Read more »

All Things VSClinical

      Delaina Hawkins    August 21, 2018    No Comments on All Things VSClinical

Featured in many of our recent blog posts, webcasts and tradeshow discussions, chances are you have heard about our newest tool, VSClinical, by now. Can you blame us though?! Allowing users to automate the clinical interpretation of variants based on ACMG guidelines – it is hard not to talk about it! But, in case you have not, this post serves as… Read more »