VSClinical

VSClinical is a clinical interpretation software designed by Golden Helix that aims to assist variant scientists in analyzing and interpreting genetic variants based on the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP) guidelines. The software is marketed as suitable for companies of all sizes, including small, medium, and large organizations. It is targeted towards a range of professionals and industries, such as geneticists, genetic counselors, molecular pathologists, bioinformaticians, clinical researchers, and diagnostic laboratories.

Key Features

ACMG Guidelines: According to the vendor, VSClinical follows the ACMG guidelines for variant interpretation. It provides a tailored workflow that scores each relevant criterion and incorporates bioinformatic data, literature, and evidence from clinical knowledgebases.

AMP Guidelines: VSClinical offers an optional add-on for following the AMP guidelines. The vendor claims that it provides a guided workflow for interpreting and reporting small variants, copy number variations (CNVs), and fusions based on the AMP guidelines.

Accelerated Interpretation: The vendor states that VSClinical is designed to efficiently process variants by focusing on novel variants that need to be scored for the first time. It aims to quickly identify and classify likely benign variants.

Variant Knowledgebase: According to the vendor, VSClinical automatically includes previously classified variants in future analyses. These variants are marked with their last evaluation date and can be accepted in the context of the current sample.

Standardize Lab Workflow: VSClinical provides a guided workflow with standardized questions, computed evidence, and historical context, aiming to ensure consistent and reproducible final classifications.

Automate Classification: The vendor claims that VSClinical's ACMG auto-classifier algorithm reduces the complexity of variant annotation and filtering by automatically computing criteria from the ACMG guidelines.

Learn As You Go: According to the vendor, VSClinical's guided workflow includes contextual explanations, integrated documentation, and curated published literature on ACMG guideline best practices. It aims to support new variant scientists in confidently classifying variants.

ACMG and AMP Integration: The vendor states that VSClinical integrates the ACMG and AMP guidelines for assessing and reporting the pathogenicity of germline variants. It provides auto-computed classifications, supporting evidence, and reasons for suggested answers.

Biomarker Integration: According to the vendor, VSClinical automatically populates new biomarkers with gene, biomarker, and clinical evidence from the Golden Helix CancerKB. This feature is designed to facilitate the interpretation and reporting of oncogenic somatic variants, CNVs, and fusions.