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From practice.
Work with your sequencing files, understand results and see how Genome is built. Practical guides and notes from PJ Labs.
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Guide · BAM · rsIDFind an rsID directly in a BAM file
Search for rs numbers in your BAM with Genome: load the file, select BAM mode and review genotype, coverage and quality.
Read - Genomics · Workflow · PDF reports
From raw data to a traceable PDF report
How Genome processes FASTQ, BAM and CRAM locally and connects results with quality status, evidence, limitations and provenance in a traceable PDF report.
Read - Privacy · Genomics · macOS
Analysing genomic data without giving it away
Why Genome runs the entire analysis locally on your Mac: no cloud, no telemetry, reproducible reports with SHA-256 provenance.
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