PrivacyGenomicsmacOSReproducibility

Local genomic analysis: what stays on your Mac and when data goes online

Genome processes genomic files on your Mac and does not send them to PJ Labs. Optional reference lookups send requested rsIDs to public databases.

Genomic data can contain personal health and ancestry information. File size varies with the sequencing method, coverage and format. Before an analysis, it helps to know where source files are processed and what an optional online lookup sends.

Genome is a native macOS app for FASTQ, BAM and CRAM workflows. Supported files are processed on the Mac and are not sent to PJ Labs. No account is required, and the app has no telemetry. Tools and reference data are downloaded from their providers when needed.

What runs locally

For a FASTQ workflow, Genome can align reads to a selected reference genome and then run the appropriate analyses. Existing BAM and CRAM files can also be used as inputs. Tools such as HLA*LA, T1K, Aldy and ExpansionHunter run as local programs. Source files and analysis outputs remain in the local directories you choose.

Local processing describes what happens to the file, not every network connection made by the app. Tool, reference and update downloads require a connection and are started by the user.

When data goes online

If you use an optional rsID reference lookup, Genome sends the requested rsIDs to the public databases named for that lookup. This lets the app retrieve reference records without uploading the genomic file. The database provider processes the request under its own privacy terms.

In the browser-based rsID Search, the loaded file also stays local. For dbSNP or ClinVar lookups, the requested rsIDs go to NCBI; ClinGen is queried with gene names found during matching. Atlas requests selected reference regions from Ensembl. Each tool describes the data it uses and where its requests go.

What a report can show

Genome reports bring together available results and show sources, quality information and technical limits where the workflow provides them. Input and run details help readers follow how a result was produced. They do not guarantee that a later run will reproduce every value or provide a clinical conclusion: software, references and public database records can change.

Genome is a research and educational tool (Research Use Only), not a medical device or a basis for diagnosis or treatment. A variant finding needs assessment in its scientific and clinical context.

Who this is for

Genome is for people who want to examine genomic data on a Mac while keeping technical steps visible: researchers, small labs and technically minded users. For one rsID in a BAM file, see the guide to searching directly in a BAM. The WGS, SNP and WES comparison explains the input formats.