Tagged with #baseqranksum
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Created 2015-07-29 01:58:31 | Updated | Tags: filtering baseqranksum
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Hello,

I was plotting the distribution of BaseQRankSum and noticed a large number of variants with a BaseQRankSum outside of Z-score of +/- 2, which suggests that a lot of variants have significant base quality differences between the REF and ALT. I plotted the distribution of ClippingRankSum, MQRankSum, and ReadPosRankSum and the majority of variants had Z-scores inside +/- 2.

Is this typical and what is this suggestive of? I followed the best practices for DNA sequencing using GATK3.

I found this post (http://gatkforums.broadinstitute.org/discussion/2035/z-scores-for-baseqranksum), which is similar to what I'm asking but has a different distribution of Z-scores.

Thank you in advance.

Dave


Created 2014-04-23 14:29:03 | Updated | Tags: baseqranksum
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Hi, Why does BaseQRankSum annotation tag appear just in some variants? Which is the differences between variants with this tag and those without it? Thanks


Created 2013-05-09 16:40:31 | Updated | Tags: unifiedgenotyper mqranksum readposranksum baseqranksum --glm glm
Comments (2)

I have run UnifiedGenotyper with the -glm options SNP and BOTH. These two approaches yield identical variants and identical genotype likelihoods (at least the first 100k variants I checked). However, a few of the annotations have different values: BaseQRankSum MQRankSum ReadPosRankSum

-glm SNP on the left and -glm BOTH on the right:

MQRankSum=-1.762 MQRankSum=-1.785

MQRankSum=-5.307 MQRankSum=-4.970

MQRankSum=0.262 MQRankSum=-0.022

MQRankSum=-0.680 MQRankSum=-0.710

MQRankSum=1.016 MQRankSum=0.231

MQRankSum=-0.693 MQRankSum=-0.681

MQRankSum=-0.839 MQRankSum=-0.830

MQRankSum=1.924 MQRankSum=1.889

MQRankSum=-0.991 MQRankSum=-0.665

MQRankSum=-0.459 MQRankSum=-0.958

BaseQRankSum=-1.803 BaseQRankSum=-1.881

BaseQRankSum=6.918 BaseQRankSum=6.894

BaseQRankSum=-2.512 BaseQRankSum=-2.524

BaseQRankSum=2.000 BaseQRankSum=2.020

BaseQRankSum=2.095 BaseQRankSum=2.006

BaseQRankSum=2.134 BaseQRankSum=2.223

BaseQRankSum=-3.622 BaseQRankSum=-3.547

BaseQRankSum=1.569 BaseQRankSum=1.586

BaseQRankSum=-3.416 BaseQRankSum=-3.733

BaseQRankSum=-1.745 BaseQRankSum=-1.769

ReadPosRankSum=-0.341 ReadPosRankSum=-0.280

ReadPosRankSum=4.207 ReadPosRankSum=4.190

ReadPosRankSum=-3.809 ReadPosRankSum=-3.832

ReadPosRankSum=-2.047 ReadPosRankSum=-2.060

ReadPosRankSum=-1.279 ReadPosRankSum=-1.232

ReadPosRankSum=-3.921 ReadPosRankSum=-3.955

ReadPosRankSum=-1.500 ReadPosRankSum=-1.486

ReadPosRankSum=-0.374 ReadPosRankSum=-0.403

ReadPosRankSum=3.209 ReadPosRankSum=3.188

ReadPosRankSum=1.889 ReadPosRankSum=1.868

Why is that?

I noticed another user got different variants, but I get the same variants and the same likelihoods: [http://gatkforums.broadinstitute.org/discussion/1782/unifiedgenotyper-different-glm-value-result-in-different-sets-of-variants]

I ran single threaded.

I use MQRankSum and ReadPosRankSum for VariantRecalibrator, so it affects my downstream results, if the annotations are -glm dependent. Hence I am asking my question. I hope you can illuminate me. Thank you.