VSClinical Description
VSClinical facilitates the clinical analysis of genetic variants in accordance with ACMG and AMP guidelines. Its structured workflow supports adherence to the American College of Medical Genetics (ACMG) standards, which are essential for identifying and categorizing pathogenic variants related to inherited disease risk, cancer susceptibility, and rare disease diagnosis. The combined ACMG/AMP guidelines for variant interpretation establish a framework for scoring variants and categorizing them into one of five classification levels. Implementing these guidelines necessitates a thorough examination of annotations, genomic contexts, and pre-existing clinical insights for each variant. VSClinical streamlines this process by offering a customized workflow that evaluates each relevant criterion and supplies comprehensive bioinformatics, literature references, and clinical knowledgebase evidence to aid in the scoring and interpretation of variants. This innovative approach is designed to enhance the efficiency of variant scientists as they navigate the complexities of variant processing and analysis. Overall, VSClinical stands out as a vital tool for accelerating the understanding and classification of genetic variants in clinical settings.
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Pricing
Free Trial:
Yes
Integrations
Company Details
Company:
Golden Helix
Year Founded:
1998
Headquarters:
United States
Website:
www.goldenhelix.com/products/VarSeq/vsclinical.html
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Product Details
Platforms
Web-Based
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Training Docs
Live Training (Online)
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In Person
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Customer Support
Business Hours
Online Support
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