TargetedDNASeq_VCF to MAF and downstream analysis

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ravi

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Apr 29, 2024, 9:33:50 PMApr 29
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Hi,

I am new to DNA seq data analysis.

1 - May I know which module is best for analysing Targeted DNA Seq data? 

2 - Is it possible to convert vcf files to maf format files for downstream analysis using GenePattern?
3 - Also, could you let me know if it is possible to generate different plots (number of mutations per sample, top 10 mutated genes, unique/novel mutations, commonly shared mutations in different samples....) for targeted DNA seq data using which module in GenePattern?
Your suggestion will be helpful.

Thank you,
Ravi.
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forre...@gmail.com

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Apr 30, 2024, 5:25:54 PMApr 30
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Hi Ravi,

1 & 3 - Given the type of analysis you are looking to perform the closest module on GenePattern seems to be MutSigCV (https://www.genepattern.org/modules/docs/MutSigCV). Take a look at the documentation to see if it fits your needs.

2 - For converting a VCF file to the MAF file format, there is no module currently on GenePattern that can do that task. Outside of GenePattern, you can check out this commonly used tool: https://github.com/mskcc/vcf2maf.

Let me know if you have any more questions of if we can help in any other way.

Thanks,
Forrest

ravi velaga

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Apr 30, 2024, 9:06:15 PMApr 30
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Hello Forrest,

Thank you very much for your expert suggestions. I will give it a try.

Best regards,
Ravi.


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ravi velaga

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Apr 30, 2024, 9:14:06 PMApr 30
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Hello Forrest,

I am sorry for the follow-up. I looked into MutSigCV documentation and found that it accepts MAF file format data from whole genome/exome sequencing. However, as I mentioned, I want to analyse Targeted DNA/Amplicon sequencing data. Can I still use MutSigCV?

Your reply will help.

Thank you,
Ravi.


On Wed, 1 May 2024 at 06:25, forre...@gmail.com <forre...@gmail.com> wrote:
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forre...@gmail.com

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May 6, 2024, 2:50:23 PMMay 6
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Hi Ravi,

I'm not too sure about if it works with that type of data. My assumption is that it might have some issues downstream. You might want to get in touch with the original module author Mike Lawrence Ph.D. to get further clarification.


Thanks and let me know if you have any further questions,
Forrest

ravi velaga

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May 7, 2024, 3:23:05 AMMay 7
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