Sources Of Publicly Available Human Rare Disease WES/WGS Data

Question

[epaminonda]

Hi,

I was wondering if there are any repositories of WGS/WES for rare human diseases, apart from the DDD dataset. I imagine there will probably be a variety of publications each focusing on a particular disease - if so are people aware of an aggregating resource for rare disease where I could quickly have an overview of what's available? Any other ideas? Than you in advance.

Answer 1

[mastal511]

The EGA

https://www.ebi.ac.uk/ega/home

has data from papers dealing with disease studies, but for most of the data, you will have to contact the study authors for permission to access.