Allele1 allele2 what do they represent?

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Peiyuan Zhu

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Jul 11, 2025, 12:00:42 AMJul 11
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For allele1 and allele2, which one is reference and which one is alternative? Is the dosage number the copies of reference allele or alternative allele? 

Christopher Chang

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Jul 12, 2025, 11:52:04 AMJul 12
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https://www.cog-genomics.org/plink/1.9/formats#bim

Use plink2 --pfile/--make-pgen, instead of --bfile/--make-bed, if you want to easily keep REF/ALT alleles straight.
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