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GENOMIC_MAPPING_README.md

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warning

src/compute_genomic_mapping.py is a heuristic tool to map variants from an older reference to a new one. It is a honest, if futile, attempt at covering a frequent or semi-frequent variant definitions from a wild zoology of edge cases in UCSC variant definitions, and map them to GTEx variant definition.

It doesn't handle all possible cases but should handle most.

Edge case 1

See the following GTEx variant:

chr   variant_pos variant_id                ref alt  num_alt_per_site	rs_id_dbSNP150_GRCh38p7
...
chr10 47225796    chr10_47225796_G_GTCC_b38 G   GTCC 1                  rs142868522

This variant explictly declares alleles G and GTCC (rs142868522 in b38) but dbSNP declares alelles G and GTCCTC. IN snp125_hg17, there is a variant that, after liftover, maps to GTEx definition: rs10631152 but it has been delisted. What to do then, in this cases?

Edge case 2

Variant rs11348115 in UCSC https://www.ncbi.nlm.nih.gov/snp/rs11348115 is listed as -/T (delT) but is displayes as deletion of TTTTTTTTTTTTTTTT

Edge case 3

Many snps have multiple entries in the UCSC file: see for example rs3007516.

Edge case 4

Both rs9794226 and rs11813951 have the same position, and have the same alleles after swapping strands.