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Hi @wanpinglee
I download some BAM files which mapped to the GRCh38 standard set.
So, I first process this standard FASTA with Jellyfish:
$ jellyfish bc -m 25 -s 3G -t 8 -o Homo_sapiens_assembly38.bc Homo_sapiens_assembly38.fasta
$ jellyfish count -m 25 -s 1G -t 8 -o Homo_sapiens_assembly38.jf --bc Homo_sapiens_assembly38.bc Homo_sapiens_assembly38.fasta
// output file size
$ ls -lh
total 9.1G
-rw-------. 1 fup compute-jin810 7.9G Aug 13 23:51 Homo_sapiens_assembly38.bc
-rw-------. 1 fup compute-jin810 1.3G Aug 14 00:23 Homo_sapiens_assembly38.jf
Then, I ran JAX-CNV GrabJellyfishKmer: (using Docker wanpinglee/jax-cnv:latest
)
$ /tools/JAX-CNV/bin-linux/JAX-CNV GrabJellyfishKmer --ascii \
-i Homo_sapiens_assembly38.jf \
-f Homo_sapiens_assembly38.fasta \
-o Homo_sapiens_assembly38.kmer
// output file size:
-rw-r--r--. 1 fup domain users 3.0G Aug 14 02:45 Homo_sapiens_assembly38.kmer
-rw-------. 1 fup compute-jin810 727 Aug 14 01:53 Homo_sapiens_assembly38.kmer.fai
In this step, my output .fai
file were interrupt without any error.
So, I index the Homo_sapiens_assembly38.kmer
with samtools
to get validate fai file.
$ samtools faidx Homo_sapiens_assembly38.kmer --fai-idx Homo_sapiens_assembly38.kmer.fai
Finally, I ran JAX-CNV GetCnvSignal: (using Docker wanpinglee/jax-cnv:latest
)
$ /tools/JAX-CNV/bin-linux/JAX-CNV GetCnvSignal \
-f Homo_sapiens_assembly38.fasta \
-k Homo_sapiens_assembly38.kmer \
-b BAMs/UDN369194-861-05ac424d-0a44-46fe-b6f6-0fcfe0788d2a.bam \
-o jax_cnv_GetCnvSignal_on_UDN369194.result \
--log JAX_CNV_GetCnvSignal_on_UDN369194.log
Gender: Cannot determine.
Message: The estimated coverage is -2147483648
Message: Processing chr1:0-248956421
Message: Loading chromosome chr1 is done.
Message: Loading kmer of chromosome chr1 is done.
...
Message: Loading chromosome HLA-DRB1*16:02:01 is done.
Message: Loading kmer of chromosome HLA-DRB1*16:02:01 is done.
Message: HMM completes.
1 HLA-DQA1*01:01:02 49 5548 5500
1 HLA-DQA1*01:02:01:01 49 6348 6300
...
1 HLA-DRB1*16:02:01 49 9898 9850
Filter checking for HLA-DQA1*01:01:02 49 5500
Message: Loading kmer of chromosome HLA-DQA1*01:01:02 is done.
0 0.0118182
1 0
2 0
3 0.00636364
4 0
5 0
6 0
7 0
8 0
9 0
0 10 10 0
Filter
...
Filter checking for chr1 10049 125174600
Message: Loading kmer of chromosome chr1 is done.
0 0.0306559
1 0.029093
2 0.0187111
3 0.0145986
4 0.0127288
5 0.0127871
6 0.0203479
7 0.0137128
8 0.0194234
9 0.0534288
0 10 10 0
Filter
...
// OUTPUT:
-rw-------. 1 fup compute-jin810 2.7G Aug 15 01:15 JAX_CNV_GetCnvSignal_on_UDN369194.log
-rw-------. 1 fup compute-jin810 0 Aug 15 01:12 jax_cnv_GetCnvSignal_on_UDN369194.result
I tried 5 different BAMs, and all of them had no result. (result file is empty)
And, I'm wondering that the logs shows:
Gender: Cannot determine.
Message: The estimated coverage is -2147483648
Why is our BAM file had a huge negative coverage?
And do you have any suggestion for fix this problem? Thank!
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