Service note: Geraldine is on vacation this week; other members of GSA will be responding to questions, but they have a lot of work besides this, so be aware that responses may be a little slower than usual. Thank you for your patience.

Why are some of the annotation values different with VariantAnnotator compared to Unified Genotyper?

Geraldine_VdAuweraGeraldine_VdAuwera Posts: 2,239Administrator, GSA Official Member admin

As featured in this forum question.

Two main things account for these kinds of differences, both linked to default behaviors of the tools:

1. The tools downsample to different depths of coverage

2. The tools apply different read filters

In both cases, you can end up looking at different sets or numbers of reads, which causes some of the annotation values to be different. It's usually not a cause for alarm. Remember that many of these annotations should be interpreted relatively, not absolutely.

Geraldine Van der Auwera, PhD

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