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how to use background based on gnomAD ? #6

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hsxsin opened this issue Apr 23, 2018 · 7 comments
Open

how to use background based on gnomAD ? #6

hsxsin opened this issue Apr 23, 2018 · 7 comments

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@hsxsin
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hsxsin commented Apr 23, 2018

hi
I I've successfully run the VVP,but I do know how to use background based on gnomAD? I download gnomad.062717.build.tar.gz and unzip it ,can not find gnomad.062717.build.bin and gnomad.062717.build.max.
can you provide some tips or command to build gnomAD background?

@stevendflygare
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I'm sorry to hear you are having problems getting the gnomAD background. If this is helpful, here is the md5sum of gnomad.062717.build.tar.gz: 410658dafc0ed3f65b3b51f04354a34a. Then if you:

tar -zxvf gnomad.062717.build.tar.gz

you should see 3 files:

gnomad.062717.build.bin
gnomad.062717.build.chr_offsets.txt
gnomad.062717.build.dist

These files are what you need to run VVP against the gnomad background.

@hsxsin
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hsxsin commented Apr 25, 2018

when I run VVP:
VVP -i test.vep.vcf -d /VVPdatabase/gnomad.062717.build.bin -v CSQ,4,6,1,15 1
an error occurred:
FATAL: could not create mmap from /VVPdatabase/gnomad.062717.build.bin.dist

should I create background first? but build_background help Information said I should input VCF file。what should I do
Best wishes

@stevendflygare
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stevendflygare commented Apr 25, 2018

With the -d option, you want to give the prefix to the database. So it should look like -d /VVPdatabase/gnomad.062717.build

@hsxsin
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hsxsin commented May 2, 2018

I use -d option,VVP -i test.vep.vcf -d /VVPdatabase/gnomad.062717.build -v CSQ,4,6,1,15 1
and can't execute:
FATAL: could not create mmap from /VVPdatabase/gnomad.062717.build.dist

@barrymoore
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barrymoore commented May 10, 2018 via email

@jina-ali
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Hi,
when I run vvp:
VVP -i test_VEP.vcf -d gnomad.062717.build -v CSQ,4,6,1,15 1> test_VVP.out

I could have the raw scores (hemi_score,het_score, hom_score), but all the vvp scores (hemi_vvp,..) are equal to -1. what should I do?

@sandeepyuva1994
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Hi Steven,
I tried running vvp on a test sample data and but it gives 'WARNING: chromosome chrY not in offsets' error all chr, also I have not been able to figure what the CSQ parameter is about. If you clarify these, it would be helpful for my analysis.

command : ./VVP -i /test_sample.vcf -d /VVP-pub-master/gnomad.062717.build -v CSQ,4,6,1,15 1>test_sample.out
error : WARNING: chromosome chrY not in offsets

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