Rare variants from annotated vcf file

rohan1925rohan1925 New YorkPosts: 4Member
edited February 10 in Ask the GATK team

Hi,

I have annotated my vcf file of 20 samples from Unified genotyper using the following steps.

Unified genotyper->Variantrecalibration->Applyrecalibration->VariantAnnotator

My question is how should I proceed if I have to select rare variants (MAF<1%) for the candidate genes that I have,for each of these 20 samples?

Post edited by rohan1925 on

Answers

  • Geraldine_VdAuweraGeraldine_VdAuwera Posts: 6,624Administrator, GATK Developer admin
    edited February 10

    Hi there,

    If you're asking how you should design your analysis, I'm afraid this question is beyond our current scope of support. I can only point you to the variant manipulation tools (e.g. SelectVariants) and answer specific questions about how to use them.

    Post edited by Geraldine_VdAuwera on

    Geraldine Van der Auwera, PhD

  • rohan1925rohan1925 New YorkPosts: 4Member
    edited February 10

    I want to use SelectVariants only since I have used all the tools from GATK until Variant Annotator for variants.So in this how should I get MAF (minor allele frequency) to be less than 1%,using -AF parameter?

    Also,I need to select variants only for candidate genes that I have.

    Post edited by rohan1925 on
  • Geraldine_VdAuweraGeraldine_VdAuwera Posts: 6,624Administrator, GATK Developer admin

    Ah, sorry to get back to you so late. I believe you should be able to do that simply using -select "AF < 0.01". Let me know if that doesn't work for you.

    Geraldine Van der Auwera, PhD

  • rohan1925rohan1925 New YorkPosts: 4Member

    Hi,

    Thanks for your response! I am using this command,and getting some error.

    java -Xmx2g -jar /GenomeAnalysisTK-2.7-4-g6f46d11/GenomeAnalysisTK.jar -T SelectVariants -R human_g1k_v37.fasta --variant annotated.vcf -o annotated.select.vcf -select "AF<0.01"

    ERROR ------------------------------------------------------------------------------------------
    ERROR stack trace

    java.lang.IllegalArgumentException: Invalid JEXL expression detected for select-0 with message ![0,9]: 'AF < 0.01;' < error

    In my VariantRecalibration,I had asked for following parameters to be included: -an DP -an QD -an FS -an MQRankSum -an ReadPosRankSum

    Do I have to include -an AF as well?

  • Geraldine_VdAuweraGeraldine_VdAuwera Posts: 6,624Administrator, GATK Developer admin

    No, if it was a problem of missing annotations the error would be different. Is there any chance some of your variants are multi-allelic? The problem is that for multi-allelic variants, AF is a list of numbers instead of a single number, so the JEXL expression I gave you won't work. Unfortunately there is currently no way to test AF for multi-allelic variants, so you need to skip them in order for this to work.

    Geraldine Van der Auwera, PhD

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