2
$\begingroup$

There is a graph in the link https://odelaneau.github.io/GLIMPSE/rsquare_eur.html. This graph shows the imputation accuracy of certain MAF bins. Now I understand that $r^2$ is the correlation between imputed genotype and true genotype. What I don't understand is how they calculate this $r^2$ correlation. Can anyone suggest to me how I can define the r^2 correlation between true genotype and imputed genotype? I suppose it depends on the individual who defines his own $r^2$. So, it may differ for the different algorithms. However, different aspects or different $r^2$ definitions will help me understand and represent this graph slightly differently.

$\endgroup$

1 Answer 1

2
$\begingroup$

This is done by downsampling. Take the 1000 genomes, set some genotypes as missing ./., impute them using GLIMPSE, then measure correlation between the genotype dosages in the imputed dataset and the same sample at high coverage - in this case, the 1000 genomes sequenced to 30x coverage by the NY Genome Centre.

$\endgroup$
2

Your Answer

By clicking “Post Your Answer”, you agree to our terms of service and acknowledge you have read our privacy policy.

Not the answer you're looking for? Browse other questions tagged or ask your own question.