etal / cnvkit

Copy number variant detection from targeted DNA sequencing
http://cnvkit.readthedocs.org
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Why are the log2 values of the chrX in the female reference I constructed mostly around 1? #874

Open zhuying412 opened 6 months ago

zhuying412 commented 6 months ago

Why are the log2 values of the chrX in the female reference I constructed mostly around 1?

the command is: cnvkit.py reference -x female -f hg38.fa -t *.targetscoverage.cnn -a *.antitargetscoverage.cnn -o female.ref.cnn

I already know that all the coverage files are from female samples. There are over 30 female samples.

the chr1 log2 vaues are around 0, but chrX og2 vaues are around 1. what‘s wrong?

chr1    2181928 2182263 PRKCZ,PRKCZ-AS1 0.0465799       273.164 0.570149                0.102951
chr1    2182264 2182492 PRKCZ,PRKCZ-AS1 0.193172        293.473 0.635965                0.101452
chr1    2182492 2182720 PRKCZ,PRKCZ-AS1 -0.041366       227.606 0.644737                0.0824622
chr1    2184580 2184700 PRKCZ,FAAP20    -0.0935414      198.135 0.575           0.137293
chr1    2184905 2185025 PRKCZ,FAAP20    0.0996912       227.46  0.541667                0.142527
chr1    2185277 2185513 PRKCZ,FAAP20    0.146021        257.41  0.563559                0.0843587
chr1    2186003 2186211 FAAP20  -0.673849       135.573 0.649038                0.222612
chr1    2189684 2189804 FAAP20,LOC112268219     -0.315712       168.489 0.633333                0.169231
chr1    2193638 2193910 FAAP20  -0.21091        165.574 0.709559                0.120812
chr1    2193997 2194133 FAAP20  0.116102        193.951 0.691176                0.119158
chr1    2198006 2198142 FAAP20  0.028836        227.538 0.514706                0.16853
chr1    2198753 2198988 FAAP20  -0.141123       196.836 0.625532                0.0923563
chr1    2201049 2201225 FAAP20  -0.216047       177.062 0.590909                0.166447
chr1    2203537 2203657 FAAP20  -0.0436205      189.697 0.641667                0.179415
chr1    2206120 2206240 FAAP20  -0.0783537      223.143 0.533333                0.115648
chr1    2206289 2206409 FAAP20  -0.079993       212.083 0.591667                0.149838
chrX    10500   44321   Antitarget      1.08409 0.594856        0.521155        0       0.38684
chrX    95321   133371  Antitarget      -0.648439       0.180803        0.492799        0       0.610774
chrX    222846  283690  Antitarget      1.3595  0.739088        0.554069        0       0.26073
chrX    284190  284310  PLCXD1  1.01094 198.653 0.625           0.140288
chrX    288732  288869  PLCXD1  1.22612 248.165 0.613139                0.136515
chrX    290651  290771  PLCXD1  0.860269        176.082 0.608333                0.237648
chrX    291498  291654  PLCXD1  1.03318 216.189 0.602564                0.16052
chrX    293034  293218  PLCXD1  1.19191 237.609 0.646739                0.110555
chrX    299096  299335  PLCXD1  1.36617 280.226 0.640167                0.0932014
chrX    305075  305195  GTPBP6  1.27843 247.114 0.583333                0.121238
chrX    307359  307512  GTPBP6  1.30517 242.109 0.666667                0.116407
chrX    307731  307880  GTPBP6  1.16491 214.525 0.651007                0.102272
chrX    311418  311627  GTPBP6  1.50505 295.529 0.665072                0.119271
chrX    312765  312924  GTPBP6  1.16055 224.826 0.622642                0.159013
chrX    314123  314243  GTPBP6  1.3682  242.38  0.666667                0.141329