Best practice for running GATK VQSR on X chromosome
0
0
Entering edit mode
3.3 years ago
samuelandjw ▴ 260

According to GATK best practice, it is recommended that different VQSR models be built for SNPs and INDELs, because the annotations for high-quality SNPs and INDELs are systematically different (if I understand it correctly). Since annotations for good variants on autosomes could be different from those on X chromosome, e.g., DP for good variants on X chromosome could be substantially smaller than DP on autosomes due to having large number of male samples, it seems reasonable to build VQSR models separately for X chromosome and autosomes. However, no such advice is proposed on GATK website.

My question is:

Should we build VQSR models separately for autosomes and X chromosome? If yes, we will have 4 VQSR models: Auto SNPs, Auto INDELs, X SNPs and X INDELs.

WGS GATK WES • 1.7k views
ADD COMMENT
0
Entering edit mode

Is it for WES or WGS ? If it's for WES it's not adviced to use DP in VQSR

ADD REPLY
0
Entering edit mode

WGS. I guess DP is not the only annotation that differs in X chr and autosomes.

ADD REPLY
0
Entering edit mode

But I am very doubt that only X/Y chromosome is suffercient enough to train the model, maybe we should use hard-filtering on sex chomosomes?

ADD REPLY
0
Entering edit mode

For Y chromosome VQSR could be impossible. At least for hg19, there are no reference true positive variants for Y chromosome, and hence VQSR for Y chr is impossible. For X chromosome, it is a matter of sample size. But if you are doing hard filtering for X/Y chromosomes, what would you suggest as the thresholds for hard filtering? Same as autosomes?

ADD REPLY

Login before adding your answer.

Traffic: 1514 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6