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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

GetPileupSummaries error

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    Genevieve Brandt (she/her)

    Hi Aqshin Balayev,

    It looks like this issue is coming from your VCF file, and the error is being thrown because the tool is not expecting the fields of your VCF to be formatted as they are.

    Could you check your VCF file with ValidateVariants? Could you also provide more information on how you obtained that file? It could be malformed.

    Genevieve

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    Aqshin Balayev

    Hello Genevieve Brandt, 

    I tried to run "ValidateVariants" on my VCF file and got:

    A USER ERROR has occurred: Input common_all_biallelic.vcf.gz fails strict validation of type ALL: the AF tag has the incorrect number of records at position chr1:10177, 2 vs. 1

     

    Could you please let me know why the function complains? Thanks in advance.

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    Aqshin Balayev

    As additional information I forgot to mention, I downloaded files "common_all_20180418.vcf.gz" and "common_all_20180418.vcf.gz.tbi" from https://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/ 

    and selected biallelic variants from it. However I think, AF field contains allelic frequencies of both reference and alternate alleles and GetPileupSummaries can't take it as an input. Thank you for help. 

     
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    Genevieve Brandt (she/her)

    Aqshin Balayev,

    It sounds like you are on the right track. Have you figured out the cause of this issue?

    Best,

    Genevieve

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