Variant Interpretation with VSClinical: Clinical Example for Congenital Indifference to Pain

VSClinical provides a rapid-fire way to investigate any variant’s impact by following the ACMG Guidelines process for classification. We will be demonstrating this by looking at interesting examples of rare disorders and showcasing some evaluation steps users may deploy in their analysis. Our first example in this blog series is for a patient who has indifference to pain, while all… Read more »

On Our Way to AMP Global 2019

We are looking forward to a great conference at AMP Global 2019: Global Congress on Molecular Pathology being held in Hong Kong! If you are attending the conference, we hope you will stop by our booth and say hello to the team! We would love the opportunity to connect with everyone within our community in person. This conference is especially… Read more »

Top 5 Features of Sentieon

      Will McDonald    April 23, 2019    No Comments on Top 5 Features of Sentieon
Sentieon's Tools

Sentieon develops bioinformatics secondary analysis tools to process genomic data with high computing efficiency, fast turnaround time, exceptional accuracy and 100% consistency. These features are what led to the partnership of Golden Helix and Sentieon to provide users with a comprehensive solution for genomic data analysis. This blog post gives readers a more detailed understanding of the top five features… Read more »

Automating Clinical Workflows Part 3

In the previous two articles, we explored the different steps of a clinical workflow. The first post covered the automated analysis that creates a VarSeq project. While the second post covered the interpretation steps and generation of a clinical report. These posts illustrated the ease with which these complex tasks can be carried out. Today we’ll dig a little bit… Read more »

Automating Clinical Workflows Part 2

In the previous blog post, we covered the automated steps to create a VarSeq project. Today we will examine the active analysis steps. These are the steps that require human interpretation to analyze the clinically relevant variants. A lab tech can take the first pass at the output in the generated VarSeq project. They can perform the quality control and… Read more »