Changelog

Version 0.8.1 adds a sticky contents panel to results and reports, restricts 2D domain maps to causative candidates, and reorders key sections for faster review.

• Results and HTML reports now have a sticky left-side contents panel with scroll-spy and smooth navigation; panel is draggable.
• 2D InterPro domain maps are now restricted to the same supporting causative candidates shown in 3D structure views.
• Downloads, ranked variants, and research report now appear before protein structure panels.

Version 0.8.0 makes reports easier to scan with PGx/GWAS networks, 3D protein views, and InterPro domain maps for coding candidate variants.

• PGx and GWAS findings now appear as compact network views in live results and reports.
• Coding candidate variants can show predicted 3D protein structure context and 2D InterPro domain maps.
• The case-decision panel now shows clearer candidate identifiers, including transcript, cDNA notation, and genomic location.

Version 0.7.0 adds pharmacogenomics context so medication-response findings are visible without mixing them into Rare Disease - Singleton ranking.

• Matched PGx findings are shown in their own Pharmacogenomics Context section.
• Drug, gene, phenotype category, evidence level, and supporting links are kept together for review.
• PGx context stays separate from ACMG/AMP classification and diagnostic ranking.

Version 0.6.1 adds GWAS association context and improves how saved analyses, phenotype wording, and AI fallback messages behave.

• GWAS Catalog matches are shown as population-association context after the diagnostic review.
• GWAS wording is more cautious, focusing on phenotype signal without implying causality.
• History and AI fallback messages are more reliable and easier to understand.

Version 0.6.0 adds AI-assisted HPO extraction, expands Word-report drafting across workflows, and improves analysis progress feedback.

• Clinical descriptions can be reviewed for supported HPO terms before running an analysis.
• Carrier screening and trio workflows now have AI-assisted Word-report narratives with fallback wording when AI is unavailable.
• Long-running analyses show clearer AI review progress while candidates are processed.

Version 0.5.0 adds per-gene GTEx expression context directly inside result tables.

• Gene rows can expand to show tissue-level expression summaries.
• Expression is presented as biological plausibility context, not pathogenicity evidence.
• The expression panel includes tissue ranking, TPM values, and a reviewer note field.

Version 0.4.5 makes phenotype extraction more tolerant of clinically equivalent wording while keeping the extraction evidence-bounded and ontology-validated.

• Common clinical paraphrases and wording variants are recognized more reliably.
• AI extraction remains constrained to supported patient text and valid HPO identifiers.
• Negation and excluded-finding handling remain conservative.

Version 0.4 adds a cautious case-level decision to rare-disease reports.

• Rare-disease reports now summarize whether the case is positive, inconclusive, or has no positive candidate identified.
• The decision is shown with a simple evidence spectrum and reviewer guidance.
• DP/GQ thresholds and BED filtering are available across analysis workflows.

Version 0.3 improves inheritance-mode handling and phenotype-aware mode selection.

• Inheritance terms are mapped more accurately from the HPO database.
• Additional inheritance modes, including de novo and mosaic patterns, are recognized.
• When a gene has multiple inheritance modes, phenotype fit helps choose the most relevant one.

Version 0.2 adds direct OMIM links and a simple update notice for returning users.

• Gene cells in ranked, carrier, trio, and report tables now link to OMIM.
• The new changelog page at /changelog lists recent website updates.
• Returning users see a small announcement banner after updates until they dismiss it once.

Recent workflow refinements focused on report readability, review guidance, and safer interpretation support.

• Improved report wording and review summaries.
• Expanded help text for analysis and export flows.
• Tighter layout behavior across result tables and cards.