Dosage imputation to VCF conversion

[Karsten Sieber]

Does anybody have a tool (or suggestions) how to convert minimac/minimac2 .dose and .info files into .vcf? I am trying to use EPACTS for a study contributing to a consortium and their suggested tool (dose2vcf, http://www.sph.umich.edu/csg/cfuchsb/dose2vcf_v0.5.gz) is not available. 

Thanks for any suggestions and help,

Karsten

[Gregory Zajac]

This tool can convert dosages and vcfs: https://github.com/Santy-8128/DosageConvertor

[Karsten Sieber]

​Thanks for the response Gregory. My understanding is that the DosageConverter tool converts vcf (with dosage info) into .dose & .info files. I need to convert the dosage files (.dose & .info) -> .vcf format. 

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[Gregory Zajac]

Are you able to rerun your imputation in minimac3? That would be much faster than minimac2 and does output vcf files by default. If you don't want to run it on your own machine you can use our imputation server. https://imputationserver.sph.umich.edu/index.html

Yun Li http://www.unc.edu/~yunmli/software.html#utilities might also have a tool that converts the dosage files. I do see one on her web page that converts dose2geno, which should be able to be converted to VCF.

You can also contact Chrisitan Fuchsberger if he still has his dose2vcf tool on the web somewhere since that particular link is broken.

On Sunday, December 18, 2016 at 2:40:52 PM UTC-5, Karsten Sieber wrote:

​Thanks for the response Gregory. My understanding is that the DosageConverter tool converts vcf (with dosage info) into .dose & .info files. I need to convert the dosage files (.dose & .info) -> .vcf format. 

On Sun, Dec 18, 2016 at 12:56 PM, Gregory Zajac <gza...@umich.edu> wrote:

This tool can convert dosages and vcfs: https://github.com/Santy-8128/DosageConvertor

On Friday, December 16, 2016 at 3:25:43 PM UTC-5, Karsten Sieber wrote:

Does anybody have a tool (or suggestions) how to convert minimac/minimac2 .dose and .info files into .vcf? I am trying to use EPACTS for a study contributing to a consortium and their suggested tool (dose2vcf, http://www.sph.umich.edu/csg/cfuchsb/dose2vcf_v0.5.gz) is not available. 

Thanks for any suggestions and help,

Karsten

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[Jongyun Jung]

Hi,

I kind of having a same issue with converting dosage files (.dose & .info) to .vcf format. 

Anybody found the solution for this one?

Thank you.

[maomao]

Hi Jongyun,

Did you figure out how to converting dosage file (.dose&.info) to .vcf format?

Thanks

[Jongyun Jung]

Hi Maomao,

Yes, I figured out the way of converting dosage file to vcf format.

I used the program of dose2vcf (link is below).

https://genome.sph.umich.edu/wiki/EPACTS_for_DIAGRAM

[maomao]

Hi Jongyun,

I install EPACTS-3.2.6 and put the dose2vcf_v0.5.gz file under the same path. And then when I was using dose2vcf/dose2vcf --dose [dose.file] --info [info.file] --out  

I was told that can not find command dose2vcf/dose2vcf.  Any suggestion?

I notice that dose2vcf_v0.5.gz file is with unrecognize symbols.

Not sure how to use it.

Thanks,

MAOMAO 

[Jongyun Jung]

Hi Maomao,

I don't think you need to install EPACTS-3.2.6 to extract vcf format from dosage. 

Once you download the dose2vcf_v0.5 and extract it, then you have dose2vcf program. 

To run this program, you can just move this dose2vcf file where you want to run from dosage files. 

So, if you move your dose2vcf file to the directory of dosage file, then you can run something like this:

dose2vcf --dose [ .dose file ]  --info [ .info file ] --out [ output file prefix ]

You don't need to specify the folder name as dose2vcf/dose2vcf before the program.

Let me know if you have further question. 

[maomao]

Hi Jongyun,

Thanks for your details, but it still not working for me. I attached my code and the error output I ran (attached name is dose2vcf), would you mind helping me check which step is wrong? The dose2vcf_v0.5 is a .gz file, when I decompressed it, it only a file. It different from other program. (I also attached it as dose2vcf_v0.5)

Any suggestion would be appreciated..

Maomao

[Jongyun Jung]

Hi Maomao,

When you do ls in your command after decompress, can you see dose2vcf file?

If you can see, I think you should run with ./dose2vcf with parameter. 

Or you can try with ./dose2vcf_v0.5 

[maomao]

Hi Yongyun,

The program starts running, however it aborted. Give the error below. Do you have ideal what's wrong with that?

$ ./dose2vcf_v0.5 --dose AFR.ATCG_chr13.phased_imputation.dose.gz --info AFR_combined_imputed.info.gz --out out/fusion.gwas.1kg.imp.chr13

dose2vcf 0.5

(c) 2012 Christian Fuchsberger

WARNING - 

Problems encountered parsing command line:

Command line parameter --out is undefined

Command line parameter out/fusion.gwas.1kg.imp.chr13 (#6) ignored

The following parameters are available.  Ones with "[]" are in effect:

Available Options

   Minimac input options : --dose [AFR.ATCG_chr13.phased_imputation.dose.gz],

                           --info [AFR_combined_imputed.info.gz]

   Impute2 input options : --impute_dose [], --impute_sample [], --chr []

        RS mapping table : --rs []

          Output Options : --prefix [dose2vcf]

Minimac mode

Load Dosages...

   52

 Output VCF...Header...Data...dose2vcf_v0.5: ../libStatGen/include/MathVector.h:113: double& Vector::operator[](int): 

Assertion `n < dim' failed.

Aborted

Maomao

[maomao]

Hi Jongyun,

I posted partial my imputed.dose.gz file and imputed.info.gz file here. Would you help me take a look whether they both look good? For the info.gz, the ref. Allele and alternative alleles has some 1+ alleles.

imputed.dose.gz

1014_ID0000115BD0 DOSE 0.050 0.012 0.008 0.000 0.009 0.000 0.246 0.000 0.003 0.001 0.001 0.003 0.008 0.000 0.317 0.009 0.035 0.002 0.011 0.009 0.000 0.009 0.000 0.017 0.010 0.000 0.0010.000 0.000 0.003 0.000 0.000 0.003 0.004 0.008 0.007 0.001 0.000 0.002 0.007 0.007 0.014 0.000 0.634 0.003 0.000 0.005 0.003 0.000 0.000 0.000 0.000 0.328 0.000 0.189 0.000 0.037 0.0000

imputed.info.gz

SNP Al1 Al2 Freq1 MAF nIndiv r2_hat1:10177 A AC 0.446 0.446 52 0.0431:10235 T TA 0.001 0.001 52 0.0001:10352 T TA 0.419 0.419 52 0.0261:10539 C A 0.001 0.001 52 0.0001:10616 CCGCCGTTGCAAAGGCGCGCCG C 0.994 0.006 52 0.0021:10642 G A 0.003 0.003 52 0.000

[Jongyun Jung]

Hi Maomao,

It seems that when you are running the dose2vcf program, it looks like running correctly.

I think the error is that when you give a command like above,

$ ./dose2vcf_v0.5 --dose AFR.ATCG_chr13.phased_imputation.dose.gz --info AFR_combined_imputed.info.gz --out out/fusion.gwas.1kg.imp.chr13

Where do you want to locate your output? I think the error is with out/fusion.gwas.1kg.imp.chr13

The program cannot recognize out/fusion.gwas.1kg.imp.chr13. You need to specify the location like this ./out/fusion.gwas.1kg.imp.chr13 or full directory of your output.

[maomao]

Thanks for all your help Jongyun.

It still not working. I guess it is due to my own data.