What is ploidy level for HaplotypeCaller ?
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7.0 years ago

Dear all,

I have rudimentary questions about GATK pipline:

First about HaplotypeCaller , I have set -ploidy 1 , my sample belong to human specie.

Is it correct to set ploidy=1 for human?

I'm working on germline mutation but I saw different pipeline for somatic mutation in GATK best practice,I'd like to know for finding somatic mutation we should have at least >=2 samples to make comparison right?

And What is the best tool in GATK for somatic mutation?

Regards, Vahid

GATK SNP genome • 2.3k views
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Entering edit mode
7.0 years ago

Humans are diploid, so ploidy = 2, which is the default setting so you don't have to specify this.

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