Variant Interpretation Pipeline

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NM_000546.5:c.818G>A
NM_007294.3:c.181T>G
NM_004985.4:c.35G>A
NM_005228.5:c.2573T>G
NM_004333.4:c.1799T>A
Genes with enhanced VCEP support:
ATM PIK3CA TP53 BRCA1 PTEN RUNX1
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Recent Interpretations 10
Updates New
April 14, 2025
Bug Fix
Genomic Coordinate Support Improved

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.

April 8, 2025
New Feature
Variants Browser Launched

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.

Apri 8, 2025
System Update
VariantValidator local API implemented

Set up local instance of VariantValidator API to handle API requests for more stability

Webapi still active as fallback

March 23, 2025
New Feature
SpliceAI Integration & Result Improvements

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.

March 15, 2025
System Update
Performance Optimization

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.

March 5, 2025
Important
LYFE SCIENCE V2 Deployed

LYFE SCIENCE V2 Deployed