WGS phasing

Are there any plans to release a phased version of the 500K WGS similar to what was done for 200K?

Comments

4 comments

  • Comment author
    Rachael W The helpers that keep the community running smoothly. UKB Community team Data Analyst

    Yes, it is planned to release phased versions of the DRAGEN joint variant call in 2024.

    See page 10 question 8  in https://www.ukbiobank.ac.uk/media/dovbae03/uk-biobank-final-whole-genome-sequencing-release-faqs_v1-0.pdf .

    At present, we do not have a more precise date for this.  The future timelines page at https://www.ukbiobank.ac.uk/enable-your-research/about-our-data/future-data-release-timelines should provide more details once they are known.

    1
  • Comment author
    Chinmay Raut

    Has this already been released yet? I don't see it on the future timelines page anymore.

    0
  • Comment author
    Rachael W The helpers that keep the community running smoothly. UKB Community team Data Analyst

    Hi Chinmay,

    the Phased DRAGEN data has not yet been released, and it is not planned to be part of the next release (in Q1 2025).   When it is imminent, it will be added to the future timelines page.

    Thank you for using the forum.

    0
  • Comment author
    Yong Qian

    I randomly picked a individual vcf file from DRAGEN cram and found that among 5 million+ variants in the file, 676,866 are phased (GT 1|1 or such)  and the rest are unphased (1/1).

    How the phasing was done to those phased variants?  Can I used shapeit  and its .b38.gmap.gz to phasing all the variants?   Will there be much change to the variants that are already phased?

    1

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