Andrew

I have the same experience. Any progress on this issue?

Thanks, I see the CADD scores in the JSON file but no REMM score. It appears the data files are found, but no annotations are added in the output. ```...

Sorry for the delay, I didn't see this response until now. Yes, I'm analyzing exome data, so that explains it. I do actually see a couple variants now which passed...

Hi @julesjacobsen. If people are normally using LOCAL as a population-specific reference and want to use it for genetic model filtering then I wouldn't want to remove that capability. (And...

@julesjacobsen After some digging in the issues to see some of the thinking behind the LOCAL db, it seems like the default should be to *use* it for inheritance mode...

Hi @julesjacobsen, we added this small change to our in-house copy of exomiser so we can create direct links to particular genes within the html file output. Any objections to...

@pnrobinson Yes, it appears so. I wasn't familiar with the term until you mentioned it but that describes this. For additional information, it looks like there is some level of...

I'll just note that we identified another case where the likely candidate gene exhibits pseudodominant inheritance so it would be great if this could be detected in Exomiser. This second...

@pnrobinson Oh, actually, I misspoke -- this latter example is _not_ the same pattern. For the latter case, I don't actually have access to the exome data for that one...

Thanks for the idea @garrettjstevens. I tried this and it still took ~2 hours to run. Thanks @pd3, I'll try that next.