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

·       [V40] Phasing and compound het determination for higher interpretation confidence in singletons

·       [V40] STR length estimation extended to thousands of KB

·       [V40] MRJD copy-resolution in homologous genes (SMN1/2, PMS2, RCCX, STRC, CYP2D6, and more)

·       [V41] Colocation map

·       [V41] Interpretation per copy in Connected Variants for phased MRJD TruPath data

Structural variants (BND & complex SV)

·       [V40] More DRAGEN SV quality metrics on the Variant Page (CI-POS/CI-END, PR/SR support)

·       [V41] Ingest and annotate BNDs with balanced events converted to TRA / INV

AI models & shortlisting

·       [V40] User-defined phenotype hierarchy: Critical, Strong, Standard, Ignore, or Negative weighting

·       [V40] PromoterAI: deep-learning regulatory impact scores feed into variant severity

Filtering & presets

·       [V40] Advanced filter operators — AND / OR / Exclude. Nested condition groups up to three levels deep

·       [V41] Show preset variant count

Visualization & IGV

·       [V40] 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

·       [V41] GraphAlignment image for STR pileup visualization

Curate

·       [V40] Curate batch upload now supports ACMG and update

·       [V40] Analysis Tools multiselect now supports export to Curate

·       [V41] New article curation module powered by LLM (entity and gene-disease connection extraction)

·       [V41] Curation statuses: Draft, Pending review, Approved, Reclassification needed, Artifact

Cytogenetics

·       [V40] Visualize segmental duplications in IGV to distinguish true CNVs from mapping artifacts

·       [V41] Annotate and add metrics to manually added variants

Annotations & data sources

·       [V41] gnomAD 4.1 “All” annotation setting

·       [V41] Gene interpretation and variant notes available on the variant page in Analyze

·       [V41] Expanded STR catalog (DRAGEN 4.5)