Question: Sources Of Publicly Available Human Rare Disease WES/WGS Data
0
gravatar for epaminonda
3.6 years ago by
epaminonda10
United Kingdom
epaminonda10 wrote:

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.

wgs sequencing wes data genome • 990 views
ADD COMMENTlink modified 3.6 years ago by mastal5112.0k • written 3.6 years ago by epaminonda10
1
gravatar for mastal511
3.6 years ago by
mastal5112.0k
mastal5112.0k wrote:

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.

ADD COMMENTlink written 3.6 years ago by mastal5112.0k
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