What's New in Emedgene V100.40 & V100.41

V100.40 (March 2026) and V100.41 (July 2026) together bring the biggest leap in Emedgene's interpretation platform this year — expanding AI capabilities, unlocking TruPath long-read insights, and streamlining daily variant review. This training gives your team a guided tour of what's new, how to adopt it, and where the biggest efficiency gains are hiding.

Highlights

TruPath Genome interpretation

• V100.40 | Phasing and compound het determination for higher interpretation confidence in singletons
• V100.40 | STR length estimation extended to thousands of KB
• V100.40 | MRJD copy-resolution in homologous genes (SMN1/2, PMS2, RCCX, STRC, CYP2D6, and more)
• V100.41 | Colocation map
• V100.41 | Interpretation per copy in Connected Variants for phased MRJD TruPath data

Structural variants (BND & complex SV)

• V100.40 | More DRAGEN SV quality metrics on the Variant Page (CI-POS/CI-END, PR/SR support)
• V100.41 | Ingest and annotate BNDs with balanced events converted to TRA / INV

AI models & shortlisting

• V100.40 | User-defined phenotype hierarchy: Critical, Strong, Standard, Ignore, or Negative weighting
• V100.40 | PromoterAI: deep-learning regulatory impact scores feed into variant severity

Filtering & presets

• V100.40 | Advanced filter operators: AND / OR / Exclude. Nested condition groups up to three levels deep
• V100.41 | Show preset variant count

Visualization & IGV

• V100.40 | Per-user and per-org track selection and ordering, persisted across cases. Pop out embedded IGV to a second monitor, fully synced with the variant table
• V100.41 | GraphAlignment image for STR pileup visualization

Curate

• V100.40 | Curate batch upload now supports ACMG and update
• V100.40 | Analysis Tools multiselect now supports export to Curate
• V100.41 | New article curation module powered by LLM (entity and gene-disease connection extraction)
• V100.41 | Curation statuses: Draft, Pending review, Approved, Reclassification needed, Artifact

Cytogenetics

• V100.40 | Visualize segmental duplications in IGV to distinguish true CNVs from mapping artifacts
• V100.41 | Annotate and add metrics to manually added variants

Annotations & data sources

• V100.41 | gnomAD 4.1 "All" annotation setting
• V100.41 | Gene interpretation and variant notes available on the variant page in Analyze
• V100.41 | Expanded STR catalog (DRAGEN 4.5)