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LiftOver for genetic variants results in misplacement #70

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quattro opened this issue Jun 8, 2022 · 1 comment
Open

LiftOver for genetic variants results in misplacement #70

quattro opened this issue Jun 8, 2022 · 1 comment

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@quattro
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quattro commented Jun 8, 2022

Hi all,

Thanks for developing a fantastic tool for the community. I'm running into a liftOver issue within another package, and thought I would raise the issue here.

Namely, when I try to liftover the GRCh37 coordinates to GRCh38 for the SNP rs190850470, I see the following output:

rs190850470 chrX:50858748 -> rs190850470 chr2:33174205, which is at odds with the dbSNP entry.

Is this a bug within the R liftOver implementation, or is this an artifact liftOver algorithm itself? I found the UCSC browser gives the same mapping to chr2. Alternatively, I've found that NCBI remap correctly maps the variant to chrX:51115913. So I'm not sure what the path forward is here.

Any help or insights would be greatly appreciated.

@BEFH
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BEFH commented Oct 21, 2022

I think this is due to the use of the UCSC chain files and is working as intended. I generally discard cross-chromosome mappings.

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