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Reference/Alternate Allele Data Enrichment

Date
June 29, 2025
Hours
2
Tags
DNAVibe CodingData Science

Ok so in order to get the allele frequency data, I need chromosome, position, reference allele and alternate.

I still don’t know exactly what ref/alt exactly means, or why they can’t be derived, but regardless, the path forward seems clear.

I need to pull ref/alt data into the DuckDB database from BQ. Should be a one time operation, then update the code to pull this data in the polygenic-risk-calculator.

That way allele frequencies should have all the data needed to query BQ.