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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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HLA · WGS · HLA*LAHLA*LA from WGS: how closely do calls match laboratory typing?
A direct comparison with targeted HLA sequencing found about 94 percent allele agreement. Results vary by HLA locus, and the figure applies to a defined benchmark.
Read- Guide · BAM · rsID
Find 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
What makes a genome report traceable
The input, reference, quality and method details readers need to assess a genomic result and its limitations.
Read - Privacy · Genomics · macOS
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.
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