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Genotype changes in GWAS are ambiguous #204

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olivierlabayle opened this issue Sep 19, 2024 · 0 comments
Open

Genotype changes in GWAS are ambiguous #204

olivierlabayle opened this issue Sep 19, 2024 · 0 comments
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enhancement New feature or request

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@olivierlabayle
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The genotypes in a GWAS are ambiguous because they encode the number of A2 allele in the BED file (see https://openmendel.github.io/SnpArrays.jl/stable/) which could be either the minor or major allele. I see two options to remove any ambiguity:

  • Evaluate and arbitrate the impact of string representation on memory footprint (This is preferred because this would make the output of TarGene consistent). I suspect a 6 folds increase based on local example.
  • Make the 0, 1, 2 consistent with a minor allele count (use theminorallele function in the above package to provide the proper encoding).
@olivierlabayle olivierlabayle added the enhancement New feature or request label Sep 19, 2024
@joshua-slaughter joshua-slaughter self-assigned this Sep 23, 2024
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