sarahcn / dtc_qc

Exploration of data quality at potentially clinically relevant SNPs from "raw" direct-to-consumer genetic testing.
MIT License
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Recording current status of the project #5

Open sarahcn opened 6 years ago

sarahcn commented 6 years ago

I extracted the missing call rate from and number of observations from openSNP data and added as columns in an updated SNP list, “omniex_missense_acmg_annotated.txt.”

Somewhat anti-climatically, the missing call rate overall looked pretty good (median MCR = 0.003). Only 3 SNPs had MCR > 5%. I still think it would be interesting to compare annotated allele freqs with openSNP users. I stopped short of that here because it looks like you’d have to do some strand flipping (i.e. openSNP users don’t appear to have genotypes on consistent strand).

Bastian commented: "Would be interesting to compare the 3 “extreme” cases maybe"