8000 Request to Query Alleles · Issue #13 · RitchieLab/biofilter · GitHub
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Request to Query Alleles #13
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@katiecardone26

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@katiecardone26

I think that biofilter should return reference and alternate alleles in addition to the chromosome, position, RSID, etc. This would be really useful. For example, when annotating GWAS results, I sometimes get multiple RSIDs for a particular chromosome and position. This is because there can be different types of variations at a particular position (SNP, insertion, deletion, multi-nucleotide variant). Having an allele will help to parse through these duplicates and identify what RSID matches my variant of interest. I believe these are available in the databases that LOKI pulls from.

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