Are the unplaced contigs of Hg38 included in the alignments?

Permanently deleted user
Hi everyone,   As far as we are aware, the alignments available from the UKB have been obtained with BWA MEM against a Hg38. If so, are we right in assuming that alignments to the unplaced contigs (particularly chrUn_GL000220v1) have been preserved?   Cheers, Fran

Comments

6 comments

  • Comment author
    Ondrej Klempir DNAnexus Team

    Hello Fan, could you please tell us which dataset you mean?

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  • Comment author
    Permanently deleted user

    Hi Ondrej. With UKB I meant UK Biobank. Sorry for not being clearer. I mistakenly assumed this forum was solely for that dataset.

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  • Comment author
    Ondrej Klempir DNAnexus Team

    Thanks Fran, and are you referring to WGS or WES? Is it e.g. 200k WGS or 450k WES etc.?

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  • Comment author
    Permanently deleted user

    WGS

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

    Hi Fran,

     

    Yes, the chrUn_GL000220v1 contig is present in CRAM files available at RAP.

    Once you have access to CRAMs you can check which contigs are included using `samtools idxstats`

     

    Best wishes,

    Aleks

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  • Comment author
    Permanently deleted user

    That's great to know, thanks.

     

    We are aware we could check for the contig alignments from the CRAM files, but it was important for us to know in advance before we commit to paying upfront (since paying for the computational resources that re-align would entail is completely out of the question at the moment).

     

    Cheers,

    Fran

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