FREEMIX and CHIPMIX in verifyBamID output
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7.4 years ago
haiying.kong ▴ 360

I ran verifyBamID to check contamination and sample swapping for 2 projects. All data is from WES.

bam file is from tumor sample, and germline mutations list as vcf file is from all blood samples. Ran it on --best mode.

(1) First Project: the last 2 columns are for FREEMIX and CHIPMIX:

Tumor  MatchingBlood BestMatchBlood  FREEMIX  CHIPMIX
T99633      B99633        B99633              0.04319      0.96899
T136801    B136801       B134340            0.05034      0.97350
T96096      B96096         B134340            0.04670      0.97649
T9             B174             B134340            0.04996     0.97661
T78254      B78254          B134340            0.03918      0.98401
T127554    B127554        B134340            0.03603       0.98438

FREEMIS is larger than the threshold that verifyBamID document recommends (0.02), but still quite acceptable. But CHIPMIX is way too large. Since the genotype data is not from the same tumor sample, but from matching blood sample. So I suppose it is expected to be larger than what the document suggest. But how large is acceptable? Would 0.50 acceptable? The result above means that these tumor samples identified the correct matching blood sample as their pairs, but the matching tumor and blood samples are having very poor agreement on germline mutations. So we should conclude that these are not really matching samples. Am I right?

(2) Second project:

Tumor   Pair_Blood     BestMatch_Blood  FREEMIX CHIPMIX
N045               B68756             B68756        0.37483 0.36563

FREEMIX is too high. This means the sample is highly contaminated, and we cannot use this sample, right?

sample quality • 2.0k views
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