How exactly does downsample_to_coverage work with UnifiedGenoyper?
Posted in Ask the team | Last updated on 2012-10-17 22:23:41

Comments (3)

I haven't been using GATK for long, but I assumed that downsample_to_coverage feature wouldn't ever be a cause for concern. I just tried running UnifiedGenotyper with -dcov set at 500, 5,000, and 50,000 on the same 1-sample BAM file. One would expect the results to be similar. However, 500 yielded 26 variants, 5,000 yielded 13, and 50,000 yielded just 1. Depth of that one variant was about 1,300 in the 50,000 cutoff. Why are the results so different?

Most of the other variants are in the biggest set were cut off at 500, so some reads were filtered. A few of them are at relatively low frequency, but most are at 25% or higher. If they are appearing by chance, they should not be at such high frequencies.

In addition, there are some variants that are below 500, so they should not be affected by the cutoff. Why are those showing up with the low cutoff and not the higher cutoff?

I am using GATK 2.1-8. I am looking at a single gene only, so that is why there are so few variants and such high coverage.

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