Concern about accuracy of regional missense constraint data

macarthur-lab / gnomad_browser

gnomAD browser pre-ASHG 2018

MIT License

33 stars 16 forks source link

Concern about accuracy of regional missense constraint data #108

Closed anneodonnell closed 6 years ago

anneodonnell commented 6 years ago

I really like the regional constraint bar on ExAC view in the beta browser. CDKL5 is my go to example for regional missense constraint but it doesn't have the regional constraint marked while other genes do. Any idea why it's missing?

nawatts commented 6 years ago

https://github.com/macarthur-lab/gnomadjs/pull/18 fixed an issue where constraint data was not loaded for genes on certain chromosomes.

However, there is also another issue where some constraint regions are not displayed if their start/stop position does not fall within one of the exon regions.

mattsolo1 commented 6 years ago

Nice catch!