VarSeq Integrations

This complimentary software provides remarkable visual representations of your genomic information, allowing you to examine the specific activities at each base pair within your samples. GenomeBrowse operates as a native application on your desktop, eliminating the need to compromise on speed and quality while enjoying a consistent experience across different platforms. Designed with performance as a priority, it offers a quicker and more seamless browsing experience compared to any other genome browser on the market. Furthermore, GenomeBrowse is seamlessly integrated into the advanced Golden Helix VarSeq platform for variant annotation and interpretation. If you appreciate the visualization capabilities of GenomeBrowse, consider exploring VarSeq for tasks like filtering, annotating, and analyzing your data before leveraging the same interface for visualization. The software is capable of showcasing all your alignment data, and having the ability to view all your samples simultaneously can assist in identifying contextually significant findings. This makes it an invaluable tool for researchers seeking to gain deeper insights from their genomic data.

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.