odelaneau / GLIMPSE

Low Coverage Calling of Genotypes
MIT License
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"High Proportion of SNPs with MAF of 0 in Imputed Low-Coverage Samples: Normal or Indicative of Issues?" #209

Open waitingwaitinghu opened 2 months ago

waitingwaitinghu commented 2 months ago

Hello,

I have been using GLIMPSE2 to impute my low-coverage samples for quality control (to proceed with subsequent association analysis). Unfortunately, I found that about 80% of the SNP mutation sites have a MAF value of 0. When I set the MAF threshold to 0.05, more than 90% of the SNP sites were eliminated. I would like to ask if this phenomenon is normal? Is it a contamination issue in my sample detection, a normal occurrence after imputation, or is there a mistake in my imputation steps?

Best ZW Hu

Thecover commented 1 week ago

你的数据有问题应该