Difference in number of variants called when you switch the reference
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7.8 years ago

Hi,

I did 2 separate runs of variant calling using GATK HaplotypeCaller tool. In one run I used Sample from China (CH)as reference and sample from Germany(GER) as input file. For chromosome 1, I got a total of 38,290 variants.

In another run, I switched the reference i.e I used GER as reference and CH as input. This time I got for chromosome 1: 1,016,045 total variants.

As I understand, I should get the same number of variants as the number of positions that differ between the same pair of samples should not change. I am little confused with this result and was wondering if anybody has an explanation for this.

Thank you.

genome SNP next-gen GATK • 1.0k views
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