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Old 05-19-2016, 06:13 AM   #1
Location: Italy

Join Date: Nov 2015
Posts: 18
Default XHMM and PLINK/Seq problem

I'm trying to use XHMM for CNV detection but I have a few problems:

1) I'm following this quide for the use and I installed PLINK/Seq tools but when I try to use:

"./sources/scripts/interval_list_to_pseq_reg EXOME.interval_list > ./EXOME.targets.reg"
there is no file or script like interval_list_to_pseq_reg. So I saw in the plinkseq directory plinkseq/sources but there isn't any directory script, how can I fix it?

2) I tried to bypass PLINK/Seq step so in this command for filters samples and targets and then mean-centers the targets:

./xhmm --matrix -r ./DATA.RD.txt --centerData --centerType target \
    -o ./DATA.filtered_centered.RD.txt \
    --outputExcludedTargets ./DATA.filtered_centered.RD.txt.filtered_targets.txt \
    --outputExcludedSamples ./DATA.filtered_centered.RD.txt.filtered_samples.txt \
    --excludeTargets ./extreme_gc_targets.txt --excludeTargets ./low_complexity_targets.txt \
    --minTargetSize 10 --maxTargetSize 10000 \
    --minMeanTargetRD 10 --maxMeanTargetRD 500 \
    --minMeanSampleRD 25 --maxMeanSampleRD 200 \
    --maxSdSampleRD 150
I delete the second --ecludeTargets low_complexity_targets.txt but in the next step I have problem with runs PCA on mean-centered data:
"./xhmm --PCA -r ./DATA.filtered_centered.RD.txt --PCAfiles ./DATA.RD_PCA"
but this is the error:
ERROR: Unable to read header line from input stream
So I tried to bypass this step too but then I have an error on discovers CNVs in normalized data:
ERROR: Unable to read header line from input stream
Anyone can help me?

Thanks in advance.


I managed to run the program, and I understand where was the error. In the filtered step, with those parameters, the output file was empty, so I tied to modify the value, in particular minMeanSampleRD. But ther's one more problem. I'm using a known set of BAM files, in which i know who have a CNV, but even if I don't see an error anymore the final step (when I produce the xcnv file) produce an empty file.

I use PGM Ion Torrent with amplicon's kit.

Anyone can help me?

Thanks in advance.

Last edited by PandoraMid; 05-20-2016 at 03:44 AM. Reason: Update on results
PandoraMid is offline   Reply With Quote

cnv, plink/seq, xhmm

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