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A few years ago (2017), I have imputed chromosome X genotype data using the Michigan imputation server. I discovered the following in the output field GT:DS:GP:
0/0:0.705:0.403,0.489,0.108
DS and GP would result in most likely GT 0/1 (DS closest to 1, GP highest prob for the heterozygote), whereas GT is 0/0.
I checked by imputing the same file again, and now the default output also contains field HDS. I now think this phased DS output is used for GT determination, is this correct? See for example:
output fields: GT:DS:HDS:GP
0|0:0.695:0.212,0.483:0.407,0.490,0.102 --> I would expect heterozygote based on DS (0.695 closer to 1 than 0) and GP (0.490 is highest prob), but based on HDS, 0|0 is likely, as both dosages are below 0.5.
1|1:1.404:0.502,0.902:0.049,0.499,0.453 --> I would expect heterozygote based on DS and GP, but 1|1 is logical based on HDS (2 times > 0.5).
I would really like to know if my reasoning is correct or whether there is another reason for the 'discrepancy'.
Thank you in advance for your reactions!
Best,
Tessel
The text was updated successfully, but these errors were encountered:
Hi all,
A few years ago (2017), I have imputed chromosome X genotype data using the Michigan imputation server. I discovered the following in the output field GT:DS:GP:
0/0:0.705:0.403,0.489,0.108
DS and GP would result in most likely GT 0/1 (DS closest to 1, GP highest prob for the heterozygote), whereas GT is 0/0.
I checked by imputing the same file again, and now the default output also contains field HDS. I now think this phased DS output is used for GT determination, is this correct? See for example:
output fields: GT:DS:HDS:GP
I would really like to know if my reasoning is correct or whether there is another reason for the 'discrepancy'.
Thank you in advance for your reactions!
Best,
Tessel
The text was updated successfully, but these errors were encountered: