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Description
Describe the bug
Some variants in cancer cell-line samples are being filtered out with flags AF;AD when AF=1 and adequate depth.
Possibly linked to issue #219 but occurring for somatic variants as well as het germline with somatic LOH.
Examples of inappropriate AD;AF filter outputs. Each example has a Normal sample, a human tumour sample, and a cell-line sample grown from the tumour. These are 2 different cases. These depths, of 41 and 45, are typical of the respective samples, i.e., not particularly low or high read depths. Many other variants were not filtered out.
chr17 7674238 . C G 10207.9 AD;AF AC=2;AN=8;DP=190;MP=113.1;MQ=59;NS=3;PP=87.69;SOMATIC
GT:GQ:DP:MQ:PS:PQ:HSS:HPC:MAP_HF:HF_CR:AD:AF:FT
0|0:3076:61:60:7674238:100:0,0:80,80:0.5,0.5:0.44,0.56,0.44,0.56:62,.:1,.:PASS
0|0|1:3076:88:59:7674238:100:0,0,1:4.1,4.1,84:0.044,0.044,0.91:0.016,0.084,0.016,0.084,0.86,0.95:5,87:0.054,0.946:PASS
0|0|1:3076:41:58:7674238:100:0,0,1:1.5,1.5,39:0.036,0.036,0.93:0.0044,0.092,0.0044,0.092,0.85,0.98:0,42:0,1:AD;AF
chr13 32340756 . ATAACT A 10207.9 AD;AF;AFB AC=3;AN=6;DP=192;MP=57.14;MQ=59;NS=3;PP=3076.53
GT:GQ:DP:MQ:PS:PQ:AD:AF:FT
1|0:2236:61:60:32340756:91:35,31:0.53,0.47:PASS
1|0:2236:86:59:32340756:91:10,84:0.106,0.894:AFB
1|0:2236:45:59:32340756:91:0,45:0,1:AD;AF;AFB
Version and command
Octopus is being called from a nix pipeline with
octopus-caller = octopus-caller.overrideAttrs (
_: rec {
version = "git";
src = fetchFromGitHub {
owner = "luntergroup";
repo = "octopus";
rev = "072a0c807505671ab0532c100c84cf62bfb44230";
sha256 = "sha256-3PQ+IqWZOZU2lgES2I0q3rIiLzuM6IC+5j+ze8635wA=";
};
patches = [./sse.patch];
MEMORY = "10G";
PPN = "1";
WALLTIME = "2:00:00";
}
);
with
"env": {
"JAVA_TOOL_OPTIONS": "-Xmx27g",
"MEMORY": "30G",
"PPN": "24",
"WALLTIME": "48:00:00",
"buildCommand": "
# 'ln -s' commands to link relevant paths
octopus -R ref.fa -I *.bam -o $out \
--bamout $evidence \
--threads=$NIX_BUILD_CORES \
--fast \
-N $normal \
--annotations AD AF
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