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Hello, I had a question about bed file usage - the output from hap.py doesn't conform to my understanding of how the confident region bed file is treated.
I ran hap.py passing the confident region bed file via the -f option.
The following are the relevant lines in the bed file:
As may be seen, the location 557512 is not contained in this bed file, and is separated by more than a thousand bases from another confident region. However, a record in the truth set pertaining to this site isn't marked UNK: 18 557512 . C CAAAAA 50 . BS=557512;Regions=CONF,TS_contained GT:BD:BK:BI:BVT:BLT:QQ 0|1:FN:.:i1_5:INDEL:het:. ./.:.:.:.:NOCALL:nocall:0
This line is taken from ${OUT}.vcf.gz file output by hap.py (please refer to the run command below to see definition of $OUT). In addition, since this location is far removed from the adjacent confident regions in the bed file, it is not easy to see how this may be the product of padding a confident region.
The complete command used is as follows: python ~/hap.py-install/bin/hap.py $TRUTH $QUERY -f $BED -o $OUT -r $REF
Happy version is Hap.py v0.3.10-2-gfd67904
Thanks for any clarification!
The text was updated successfully, but these errors were encountered:
Hello, I had a question about bed file usage - the output from hap.py doesn't conform to my understanding of how the confident region bed file is treated.
I ran hap.py passing the confident region bed file via the -f option.
The following are the relevant lines in the bed file:
As may be seen, the location 557512 is not contained in this bed file, and is separated by more than a thousand bases from another confident region. However, a record in the truth set pertaining to this site isn't marked UNK:
18 557512 . C CAAAAA 50 . BS=557512;Regions=CONF,TS_contained GT:BD:BK:BI:BVT:BLT:QQ 0|1:FN:.:i1_5:INDEL:het:. ./.:.:.:.:NOCALL:nocall:0
This line is taken from ${OUT}.vcf.gz file output by hap.py (please refer to the run command below to see definition of $OUT). In addition, since this location is far removed from the adjacent confident regions in the bed file, it is not easy to see how this may be the product of padding a confident region.
The complete command used is as follows:
python ~/hap.py-install/bin/hap.py $TRUTH $QUERY -f $BED -o $OUT -r $REF
Happy version is
Hap.py v0.3.10-2-gfd67904
Thanks for any clarification!
The text was updated successfully, but these errors were encountered: