Variant Interpretation Pipeline
A streamlined approach to analyze, interpret, and classify genetic variants using ACMG guidelines and specialized VCEP recommendations.
Recent Interpretations View all
Updates New
- Dark Theme Toggle: Introduced a comprehensive dark mode option accessible via the header navigation. The theme preference is automatically saved and persists across sessions.
- Enhanced Visual Comfort: Optimized color palette reduces eye strain during extended analysis sessions, particularly beneficial for late-night variant interpretation work.
- Intelligent Contrast: All interface elements, including data tables, classification badges, and external resource previews, have been carefully adjusted to maintain optimal readability and accessibility in both light and dark themes.
- Database Integration: Screenshots and embedded genome browser views seamlessly adapt to the selected theme, ensuring consistent visual experience across all platform components.
This update addresses user feedback requesting better support for low-light working environments while maintaining the platform's professional appearance and data clarity across both viewing modes.
- UI Overhaul: Updated the overall homepage and results page design for a cleaner and more intuitive user experience.
- Effortless Data Handling & Sharing: Quickly copy key variant information (like HGVS notation and COSMIC IDs) directly to your clipboard with new one-click copy buttons. Effortlessly share detailed variant result pages using the integrated share feature.
- Automatic Database Screenshots: When a variant is identified in key databases, visual evidence is now automatically captured and stored. Quickly verify the accuracy of the source data directly within your results. Screenshots can be expanded for detailed viewing, providing robust validation and direct links to external databases.
- Embedded UCSC Genome Browser: Instantly visualize your variants within a comprehensive genomic context right inside our platform. Explore detailed tracks such as conservation scores, RefSeq and OMIM gene annotations, ClinVar variant reports, and gnomAD population data. The integrated viewer offers intuitive controls, fullscreen mode, and direct external access for deeper analysis.
These additions streamline your workflow by providing quick access to data, easy sharing, visual confirmation, and interactive genomic exploration, empowering more confident and informed variant interpretations.
Fixed an issue where queries using genomic coordinates (e.g., NC_000012.11:g.103234388A>G) weren't properly retrieving transcript information.
Genomic variants now automatically map to the appropriate MANE Select transcript with correct protein and coding changes displayed.
Introduced a new Variants page that allows you to browse all analyzed variants organized by gene. The intuitive split-panel interface makes it easy to navigate between genes and view their associated variants.
Each variant displays protein change, coding notation, transcript ID, and classification. Variants are sorted by genomic position for easier reference.
Set up local instance of VariantValidator API to handle API requests for more stability.
Webapi still active as fallback.
Added enhanced splice site variant interpretation with SpliceAI prediction scores.
Additionally, we've redesigned the results page for better visualization of functional domains and transcripts.
Significantly improved processing time for variant analysis by optimizing ClinVar and COSMIC data retrieval. Most variants now complete analysis in under 30 seconds.
The system can now handle multiple concurrent requests more efficiently, reducing wait times during peak usage.
LYFE SCIENCE V2 Deployed.