EBIvariation / opentargets-pharmgkb

Pipeline to provide evidence strings for Open Targets from PharmGKB
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Generate chr_pos_ref_alt variant identifiers using reference assembly #15

Closed apriltuesday closed 1 year ago

apriltuesday commented 1 year ago

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).