EBIvariation / opentargets-pharmgkb

Pipeline to provide evidence strings for Open Targets from PharmGKB
Apache License 2.0
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Improve gene coverage via improvements to genotype ID algorithm #36

Closed apriltuesday closed 3 months ago

apriltuesday commented 3 months ago

Based on #21 we decided the best course of action was to improve our genotype ID algorithm to fill in these missing genes. The most reliable method was to query dbSNP to get Canonical SPDI representations and use these to determine reference vs. alternate alleles.

Full algorithm: