Tag Archives: clinical variant interpretation

VarSeq 2.2.3 Released!

         April 27, 2021

I want to take this opportunity to highlight and briefly discuss some of the key features and updates that have been incorporated into VarSeq 2.2.3. Some of you may have attended the webcast that covered the prominent new features added to VarSeq, which are the updates to improve whole-exome analysis workflows, namely improved CNV calling in whole-exome datasets. However, there… Read more »

Customizing Your VSClinical Workflow: Part II

         January 27, 2020

Customizing VSClinical ACMG Guidelines Workflow Part 2  In the first part of this series, we covered how VarSeq provides customization of the clinical analysis workflow process. VSClinical’s various customization parameters within the ACMG Guidelines workflow includes the choice of how the internal knowledge base of previous variant interpretations are stored and what considerations go into this choice. In this blog, we… Read more »

Customizing Your VSClinical Workflow: Part I

         January 14, 2020

Clinical labs offer a unique and sophisticated product that is performed repeatedly with high standards of quality. VarSeq was developed to provide labs with the customization required for clinical genetic tests in a repeatable workflow. On top of this, VSClinical offers additional parameters and choices that can be made when designing the test workflow. In this blog series, we will… Read more »

New eBook Release: Clinical Variant Analysis for Cancer

         June 6, 2019

Applying AMP Guidelines to Analyze Somatic Variants Today, I am thrilled to share with you the launch of a brand new eBook titled “Clinical Variant Analysis for Cancer – Applying AMP Guidelines to Analyze Somatic Variants”. We would happy to send you a complimentary copy which can be requested on our website here. The clinical utilization of Next-Gen Sequencing data… Read more »

Clinical Variant Interpretation: Part VI

         May 1, 2018
VSClinical algorithm

Functional Predictions and Conservation Scores in VSClinical Several algorithms have been developed to predict the impact of amino acid substitutions on protein function and quantify conservation of nucleotide positions. These methods provide vital supporting evidence to clinicians when interpreting variants in accordance with the ACMG guidelines. The two most popular functional prediction algorithms are SIFT and PolyPhen2, while the most… Read more »

Clinical Variant Interpretation Based on ACMG Guidelines – Part I

         April 9, 2018

The clinical interpretation of variants is time-consuming and requires attention to details. Clinicians are being asked to thoroughly review any variants that could potentially cause disease. There are guidelines for the interpretation of variants relating to hereditary risk, germline diagnostics, and molecular oncology panels, such as those issued by the American College of Medical Genetics (ACMG), which are nationally and internationally… Read more »