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Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

vcf to maf conversion & cloud application

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    Gökalp Çelik

    Hi Ravi

    We don't have a default tool to make VCF to MAF conversion however Funcotator tool can output MAF format which may still not work for your case since MAF format is also not very well standardized. 

    You are welcome to use GATK workflows stored in Terra or IBM cloud. Costs depend many different parameters and file localization needs but you may be able to see some estimates once you start checking the workflows. 

    Regards. 

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    Ravi

    Dear Gokalp,

    Thank you for your expert reply. In that case, may I know which other tools I could use to generate plots from target seq data ?

    I will check GATK pipeline on Terra.

    Best Regards,

    Ravi.

     

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    Gökalp Çelik

    Hi again.

    There are a bunch of tools out there however it is not easy to recommend one directly. You may want to check google and biostars forums for better information on that. As I said Funcotator can also produce MAF output if you wish to annotate your VCFs and generate an annotated MAF. 

    Regards. 

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    Ravi

    Thank you, Celik. I will check Funcotator's code/package to run on Terra.

    Best,

    Ravi.

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    Ravi

    Dear Celik,

    I am checking the Funcotator's documentation on terra. Could you please suggest the columns needed for VCF to MAF conversion? Is it enough if I include gene name, and position while preparing the csv file from VCF (which I already have) or is it necessary to include any other columns like dbSNP id / REF / ALT allele information? Your expert suggestion would help.

    Thank you.

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    Gökalp Çelik

    Hi Ravi

    Sorry for my late response. I am not really expert on MAF format and its use cases however columns would certainly be dependent on what you would like to see in your final data I guess.

    Regards. 

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    Ravi

    Thank you, Celik.

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