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Old 09-01-2014, 07:41 AM   #1
Location: USA

Join Date: Oct 2010
Posts: 38
Default Is BQSR necessary for de novo mutation calling?

Hi there,
I have been using GATK to identify variants recently. I saw that BQSR is highly recommended. But I don’t whether it is still needed for de novo mutation calling. For example, I want to identify de novo mutations generated in the progenies by single seed descent methods in plants. For example, in the paper of “The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana”, these spontaneous arising mutations may not included in the known sites of variants. Based on documentation posted in GATK websites, they assume that all reference mismatches we see are therefore errors and indicative of poor base quality. Under this assumption, these de novo mutations may be missed in the step of variant calling. So in this situation, what should I do? Or should I skip the BQSR step?
Also what should I do when I reach to step- VQSR?
Hope some GATK developers can help me on this.
zeam is offline   Reply With Quote

bqsr, de novo mutations, gatk, vqsr

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