Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Allele flipping for all SNPs? #19

Open
LindsayMMB opened this issue Feb 9, 2022 · 3 comments
Open

Allele flipping for all SNPs? #19

LindsayMMB opened this issue Feb 9, 2022 · 3 comments

Comments

@LindsayMMB
Copy link

Hi,

I've checked both of my input files at least 10 times and for some reason the A1 and A2 alleles get flipped in the METAL output files.

This isn't a big deal to reverse but I was wondering if A2 was originally the affected allele, will the effect estimate and p-value METAL gives me still apply?

In other words, does the allele order given in the output matter in terms of the calculations given?

Many thanks in advance.

@welchr
Copy link
Member

welchr commented Feb 10, 2022

The short answer is the allele order in the output does not matter. METAL flips effect sizes towards a consensus effect allele as each study is read in. The consensus or final effect allele is usually the effect allele encountered in the first study file read in, but there are cases where even this is not necessarily true due to an internal allele sorting, see issue #9.

@michaelofrancis
Copy link

I can't imagine there are any new METAL users that do not waste several days trying to figure this out (myself included). Why not fix such a large and confusing problem?

@welchr
Copy link
Member

welchr commented Apr 7, 2022

You could try emailing the original authors to see if they would be willing to devote time/funding to it. (I am not the maintainer or author of METAL, just a long time user of the program and I work here in the department.)

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

3 participants