What Advanced DNA Testing Means, and What Distinguishes the Tiers
A technical comparison of genotyping arrays, exome sequencing and whole-genome sequencing, with the quality metrics to demand from each.
Tag: data-quality
3 posts
How Accurate Is Genetic Testing? It Depends on the Variant More Than the Test
Genotyping arrays, exomes, and whole genomes fail in different ways and in different places. Here is where the errors live, how to check your own data, and what accuracy numbers mean per-variant rather than per-test.
What a WGS Sample Is, and What You Get Back From One
A whole-genome sequencing sample is usually 4–10 mL of EDTA blood or a saliva kit; what comes back is 80–120 Gbp of reads, a CRAM, and a VCF with roughly 4–5 million variants. Here is how to judge the sample, the files, and the costs.