Hi, looking at the new constraint data, I see it is a bit different from the previous version.
I see there is no number of observed homozygous and heterozygous information about LOF variants.
I see there is “lof.possible” and “lof.obs”.
can you explain what each one includes?
Also, is it possible to get the total number of individuals with homozygous lof variants?
Thanks.
We have not yet generated those annotations. We plan to add some of the previous annotations, including “obs_het_lof” and “obs_hom_lof”, in a future update. A description of each of the current annotations can be found here:
-lof.obs: Number of observed high confidence loss-of-function (pLoF) variants in transcript
-lof.possible: Number of possible high confidence pLoF variants in transcript
If you have further questions please let us know.
Regards,
Kristen