Entering edit mode
5.6 years ago
MatthewP
★
1.4k
Hello, I am reading paper A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis, this is link. At table1 it says:
Can indicate sample mix‐ups. If many subjects have this discrepancy, the data should be checked carefully. Males should have an X chromosome homozygosity estimate >0.8 and females should have a value <0.2.
My question is why thresholds 0.8
and 0.2
, any data/paper supports? Thanks a lot!
Those are generic recommendations, which typically don't have specific papers to reference.
Ok, I can image that male contains one X chromosome, so genotype would be
0/0
or1/1
both can treated as homozygosity. But why female's value so low even though female has 2 X chromosome?It can't be over 1, 0.8 is 80%, which is pretty high given multimapping and such.