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3 articles in Variants & interpretation
Variants & interpretation
Downloading your raw data: VCF, FASTQ and BAM

Which file to ask for, how large they are, and what the checksums are for.

Variants & interpretation
What variant classifications mean

Pathogenic, likely pathogenic, uncertain, likely benign, benign — the five-tier scale and how we apply it.

Variants & interpretation
Why a variant of uncertain significance isn’t a diagnosis

A VUS means the evidence is incomplete. What it does and doesn’t justify doing next.

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