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Old 11-21-2016, 07:29 AM   #1
Location: USA

Join Date: Sep 2012
Posts: 41
Exclamation Question regarding Zygosity variant calling interpretation - homozygote variants

Hi everyone,

I have assembled the genome of a non-model organism - insect (de novo genome assembly) and performed read mapping to it. I am currently in the process of performing a variant analysis. For all the different variants detected (SNPs, InDels) the initial results shows that 98% of all the variants are heterozygous (ie more than one variant was called at that position) and 2% were called as homozygous (ie only one variant was called at that position).

My question is, is it plausible to have homozygote variants present, especially since its the same species and the same set of reads were used to produced both the assembly and used in the read mapping? Or is it an error that homozygote variants are being called? I am using the CLC genomics workbench v9 to call the variants

Please advise. Thank you
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bioinformatics analysis, de novo assemby, homozygous variant, variant calling

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