Changelog

Release notes.

All versions of Genome. Highlights per version.

17 June 2026

Genome 1.5.1

Fix
  • Genome 1.5.1 released as the current macOS download: Genome-1.5.1.dmg, 13.55 MB, SHA256 10fb93289b4eb1807c87d27714cfc72a4335e2faa722553f43bb8a69f1b79890
  • Status bar 'Directories' fixed: a configured but unreachable directory (for example an unmounted volume) no longer shows green by mistake
17 June 2026

Genome 1.5.0

Release
  • Genome 1.5.0 released as the current macOS download: Genome-1.5.0.dmg, 13.55 MB, SHA256 300e891ee153fb5ed4068380c7b03d0d52da90f1345a5298811c0912660243bd
  • Single-gene analysis is more transparent: a new 'not evaluated' state when no ClinVar annotation is present, clearly separated from the coverage state; the verdict itself is unchanged
  • A coverage inspector in the Analysis tab makes read depth visible (mean depth against the 30x target, minimum/maximum and per chromosome)
  • Pipeline resume: an interrupted run continues instead of restarting, with atomic writes and integrity checks of intermediate files
  • Drag-and-drop and 'Open with' for BAM/CRAM/SAM, FASTQ and SNP lists, plus native menus and keyboard shortcuts (load with Cmd-O, cancel with Cmd-period)
  • VCF tools extended with normalize and soft-filter; a reproducible run manifest with tool versions, reference SHA-256 and a conda environment snapshot
31 May 2026

Genome 1.4.1

Release
  • Genome 1.4.1 released as the current macOS download: Genome-1.4.1.dmg, 12.58 MB, SHA256 22bfa9761917680131231fa88fc8ea6d88ba864fd450e42df79bcfb7333e383f
  • Product page explains the external analysis tools: KILDA, HLA*LA, T1K, Aldy4, ExpansionHunter, microarray panel and PGS Catalog files
  • PDF reports are described more clearly by medical genomics and pharmacogenetics
  • Genome gallery fixed: the faulty first screenshot was removed; screenshot 01 now shows Conversion
14 May 2026

Genome 1.3.0

Release
  • PDF-first reports sharpened further: modular result blocks, clear risk/context labels and raw data at the end
  • Tools, reference and validation surfaces stabilized further, with better status language and cleaner prerequisites
  • Homepage release updated: Genome 1.3.0 as the current download with update manifest
25 April 2026

Genome 1.2.0

Release
  • Clinical annotations directly in the HLA report: disease-relevant alleles are highlighted inline
  • Variant calling with scatter-gather (β): GATK HaplotypeCaller runs per chromosome in parallel, much faster on many-core machines
  • Pipeline tool settings are now retained between app launches
23 April 2026

Genome 1.1.0

Release
  • HLA report in the PJ Labs document style: calm cards, consistent radii, clearer hierarchy
  • Errors from ClinVar and pipeline steps are now reported visibly instead of vanishing silently
  • Faster Y haplogroup analysis through reused date computation
15 April 2026

Genome 1.0.0

Release
  • FASTQ pipeline in an 8-step architecture with optional fastp trimming and adaptive thread assignment
  • Flat design fully migrated to PJ Labs tokens, app icon to Apple HIG standard 824
  • Local domain reports for HLA, pharmacogenetics, microarray and haplogroups
  • Microarray extraction in the Genome formats (Genome/CombinedKit, Genome Deep, MTHFR Genetics), GEDmatch-compatible
  • MT-DNA haplogroups via Haplogrep, Y haplogroup through a custom ISOGG marker approach
  • CNV analysis LPA/KIV-2 with a samtools coverage-ratio method