Changelog

Release notes.

Published Genome versions, with a short overview and detailed notes where available.

2 October 2026

Genome 2.1.1

Fix
  • Removed duplicate assessments from PDF reports
  • Numbered chapters and gene sections start on a new page
  • More reliable cancellation and better protection of existing files
  • Corrected genotype assignment

PDF reports

Duplicate assessments have been removed. Numbered chapters and gene sections now start on a new page for a clearer report structure.

Reliability and genotypes

Cancellation and preservation of existing files have been improved. Genotype assignment has been corrected.

Availability

Genome 2.1.1 (build 211) is available for Apple Silicon and macOS 14 or later. This release is ad-hoc signed and not notarized. Update by downloading and replacing the app.

2 October 2026

Genome 2.1.0

Release
  • Updated settings, project saving, help and getting started
  • PDF reports with a new cover, clearer result cards and separate functional interpretations
  • Protein FASTA export for individual genes or all MANE reference proteins, with local AlphaFold submission files
  • More accurate progress indicators and more reliable cancellation of analyses, downloads and installations
  • Expanded SNP exports for report markers and selected indels

A clearer workspace

Settings are grouped by topic. Project saving shows the current save status and recent projects. Search includes help topics, and getting started guides you through setup.

Reports and exports

PDF reports have a redesigned cover and more consistent layout. Functional study context is separate from disease associations. SNP exports include additional report markers and selected indels when the sequencing evidence supports a call.

Protein FASTA

Export MANE reference proteins for one gene or the full reference set. Suitable variant observations can produce conservative protein models. Local AlphaFold submission files are prepared without uploading genomic data. These exports are research annotations.

Progress and reliability

Progress uses measured work where available and shows activity during unmeasurable phases. Cancellation, download recovery and preservation of existing outputs have been improved.

Availability

Genome 2.1.0 (build 210) is available for Apple Silicon and macOS 14 or later. This release is ad-hoc signed and not notarized. Update by downloading and replacing the app; automatic updates from 2.0.0 are not available. Genome remains a tool for research and education, without clinical validation or diagnostic approval.

24 September 2026

Genome 2.0.0

Release
  • Genome 2.0.0 for Apple Silicon: local workflows with clearer progress and logs
  • Genome Deep: a TXT export and a navigable HTML overview with rsID search, genotype and chromosome position
  • Look up rsIDs directly in an indexed BAM; results depend on coverage and the reference genome
  • PDF reports bring available analyses together and identify missing or uncertain partial results

Genome Deep and rsID lookup

The detailed TXT file remains the primary data export. Its optional HTML companion lets you jump from an rsID to the matching genotype and marked chromosome position. For an individual site, Genome can also inspect an indexed BAM directly. A site without sufficient read evidence is not a confirmed negative result.

Workflow and provenance

Inputs, required tools and references are checked before a run. Progress, warnings and technical output remain visible in the log. Run and artifact information helps trace which inputs and settings produced a result.

Reports

The PDF reports collect the analyses available for the selected files. Sources, quality information and technical limits remain visible; optional analyses are treated separately so their absence is not silently presented as a finding. Medical and research context remain distinct.

Availability

The published 2.0.0 download is for Apple Silicon and requires macOS 14 or later. Analyses need suitable input data, local tools and reference files. Genome processes genomic files locally; optional reference lookups may send requested rsIDs to public databases.

29 July 2026

Genome 1.6.0

Release
  • Genome 1.6.0 released as the current macOS download: Genome-1.6.0.dmg, 17.60 MB, SHA256 69aa919411cdfcbb25d6ecfa99090604f37124cd0c7d0fb3aa2e25f35b8396ba
  • Reproducible workflows with resume identity, preflight checks, run provenance, an artifact library and versioned exchange formats
  • Calm native interface with centralized file input, global search, symmetric side panels and a status dashboard
  • German and English PDF reports with a shared APA 7 bibliography and verified PDF evidence
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