DRAGEN CNV and SV: is population level file avaliable?

Weichen Song

Hi all,

Currently, in the DRAGEN WGS folder, there are only individual-level gvcf available for SV and CNV, whereas population-level vcf, bgen, and plink files are available for SNV and indel. I'm wondering if the same population-level file (regardless of format) is also available for CNV and SV. From the DRAGEN pipeline, it seems that population-level VCF for all types of variants is simultaneously generated at one stop (taking fastq as input), and it seems that we could not generate it from individual gvcf using existing tools on UKB-RAP.

Thank you very much for your help.

Best,
Weichen Song

Comments

4 comments

  • Comment author
    Lydia K The helpers that keep the community running smoothly. UKB Community team Data Analyst
    • Official comment

    Currently, population-level files are not available for DRAGEN CNV and SV data. However, we are expecting population-level CNV files to become available in the future. We will communicate any updates regarding their release once more information becomes available. 

  • Comment author
    Dominic Mark Ng

    Following this because i'm interested in the same question but for the STR data.

    1
  • Comment author
    Hayley Jane Power

    Did you ever get an answer about this?

    0
  • Comment author
    Georgios Tsitsiridis

    Would also be interested in this. 

    0

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