Tag Archives: VSClinical

Reflecting on ASHG 2019

      Andreas Scherer    October 22, 2019    No Comments on Reflecting on ASHG 2019

As our team returns from another successful ASHG conference, I would like to reflect on the great memories, connections, and future plans that were made at this meeting. First, I will start by thanking everyone involved with the superb planning and execution of the conference. We are thankful to have this opportunity to connect with our customers, partners, and friends… Read more »

Clinical Validation of Copy Number Variants Using the AMP Guidelines

The common approaches to detecting copy number variants (CNVs) are chromosomal microarray and MLPA. However, both options increase analysis time, per sample costs, and are limited to the size of CNV events that can be detected. VarSeq’s CNV caller, on the other hand, allows users to detect CNVs from the coverage profile stored in the BAM file, which allows you… Read more »

Oncogenicity Scoring in VSClinical

Before examining the clinical evidence associated with a specific mutation, a clinician must establish that the variant is likely to be a driver mutation which generates functional changes that enhance tumor cell proliferation. Our recent blog series “Following the AMP Guidelines with VSClinical” briefly mentioned how the oncogenicity scoring system in VSClinical could be used to automate and assist the… Read more »

Variant Interpretation with VSClinical: RET-KIF5b Gene Fusion

Gene Fusion Background Gene fusions are hybrid genes that result from translocations, interstitial deletions, or chromosomal inversions that can lead to constitutive gene activation and result in increased or abnormal protein production. Increased or abnormal protein production subsequently can play an important role in tumorigenesis and thus identifying and evaluating this type of biomarker is important in the cancer workspace…. Read more »

Following the AMP Guidelines with VSClinical: Part II

VSClinical  users can interpret and report genomic mutations in cancer following the AMP guidelines which we’re demonstrating in this “Following the AMP Guidelines with VSClinical” blog series. Part I introduced the hands-on analysis steps involved in creating a high-quality clinical report for targeted Next-Generation Sequencing (NGS) assays. We reviewed sample and variant quality, including the depth of coverage over the target regions by the sequencing performed for each sample. Now, we are ready to… Read more »