Tagged with #genotype quality
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Created 2014-02-06 08:15:40 | Updated | Tags: unifiedgenotyper vcf
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Hi, I'm trying to understand how do you usually calculate the GQ of a SNP. I understood the model to calculate the Likelihood of all the genotypes (AA,AC, AG,AT,CC,CG,CT,GG,GT,TT). Once all the likelihood have been calculated, correct me if I'm wrong, you normalize the likelihood of the best genotype to 1 and all the other likelihoods according to that scale. So the PL field in the VCF should be the Phred-scaled values of the normalized values. But is not clear to me how do you finally calculate the GQ value. What values do you use to calculate that quality (normalized or phred scaled)? And what's the right formula? I've tried to debug the code but it ends to be really tricky. I really hope that you would help me. I would be really thankfull for that.

Created 2013-02-11 16:29:00 | Updated | Tags: unifiedgenotyper homozygosity heterozygosity
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I have a VCF containing 7.4m SNPs over 70 individuals from an F2 intercross, called by the UnifiedGenotyper v2.3.6. I am trying to set appropriate thresholds for filtering these SNPs. The attached plots summarise the individual calls from this data set, with depth on the x-axis, genotype quality on the y-axis and frequency of particular DP+GQ combinations shown in greyscale. The first plot shows 0/1 (heterozygote) calls, the second shows 0/0 (homozyote) calls (the 1/1 plot looks similar to the 0/0 plot).

The homozygote plot shows a clear relationship between minimum depth and maximum GQ; it is impossible to get high GQs at low depth. However, this is not the case for heterozygotes. This makes intuitive sense to me - at low depth, one cannot be sure that a call really is homozygote; perhaps the other allele simply hasn't been sequenced. But we can have more confidence in a low depth heterozygote, as both alleles have been seen.

However, I am wondering what your recommendations for best practice are here; do you recommend using the same GQ thresholds for homozygote and heterozygote calls, or different thresholds? If the same thresholds, it seems like there will be a bias at low coverage; many (quite possibly real) homozygote calls will be excluded, which will make it appear that there is an excess of heterozygosity in low coverage individuals.

Also, there seems to be a periodicity in the homozygote (but not the heterozygote) GQ values; GQ values divisible by three have a different distribution to other GQ values. I assume this doesn't affect the results too much (after all, the scale is fairly arbitrary in the first place) but I'd be interested to know what causes this, if it is known.

Thanks for your help,

John Davey