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Generate chr_pos_ref_alt variant identifiers using reference assembly #15

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merged 8 commits into from
Aug 24, 2023

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apriltuesday
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@apriltuesday apriltuesday commented Aug 15, 2023

Closes #5 except for RS with multiple alts, see issue comment.

Note that I manipulated the variant locations in variants.tsv to all be on chr21 so I could use a subset of the fasta file, but this also means the sample evidence strings are no longer real data and might have some quirks (e.g. I didn't change the genotypes so those don't match the reference).

@apriltuesday apriltuesday marked this pull request as ready for review August 16, 2023 09:31
@apriltuesday apriltuesday self-assigned this Aug 16, 2023
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@M-casado M-casado left a comment

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LGTM so far, but had some questions

opentargets_pharmgkb/variant_coordinates.py Show resolved Hide resolved
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@apriltuesday apriltuesday merged commit cdb0966 into EBIvariation:main Aug 24, 2023
@apriltuesday apriltuesday deleted the issue-5 branch January 8, 2025 14:28
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Generate chr_pos_ref_alt variant identifiers using reference assembly
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