Variant Interpretation Pipeline
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