How were participants recruited into V3.1.2?

Methods
1

Hello,

I was wondering if you had any information on the recruitment process of participants into v3.1.2.

I was originally going to be using v4.0 as thresholds for my variant incidence/total homozygotes in a few autosomal recessive candidate genes based on the known AR genes in this rare condition. However, in 4.0 there are over 26 incidences of pathogenic homozygous variants noted.

If I choose to use 3.1.2 because of this reason, I wondered what the recruitment of participants was for 3.1.2 and how this may differ from the 4.0 which contains the biobank.

Thanks!
Amy

2

Hello,

Thank you for reaching out and using our forum. One important thing to note is that the gnomAD v3.1.2 genome samples are the same as the gnomAD v4 genome samples, so being identical their recruitment would also be identical, if that shapes your reasoning. This is not the case for v4 exomes, though, which were not included in gnomAD v3.1.2 .

Secondly, we have more information about this on our stats and about page. A snippet from our about page, with more information at the link :

The gnomAD database is composed of exome and genome sequences from around the world. We have removed cohorts that were recruited for pediatric disease, except for a small number of diverse cohorts where we have included unaffected relatives. As such, the gnomAD resource should serve as useful reference sets of allele frequencies for severe pediatric disease studies - however, note that some individuals with severe disease may still be included in the data sets such as biobanks, albeit likely at a frequency equivalent to or lower than that seen in the general population.

And here is a relevant snippet from our stats page (more info at the link):

The gnomAD project brings in samples recruited for various studies based around the world. We are not always provided information about where samples are obtained, but we are often provided the country of the study’s institutional review board (IRB).

Version 4 of gnomAD contains samples with IRBs based in at least 25 different countries, including: Australia, Bangladesh, Belgium, Canada, China, England, Finland, France, Germany, Israel, Italy, Japan, Kenya, Korea, Lithuania, Mexico, Netherlands, Pakistan, Scotland, Singapore, Spain, Sweden, United Arab Emirates, United States, Wales.

For gnomAD v3.1.2 , the browser allows you to select down to a number of different subsets (non-cancer, non-neuro, only from controls/biobanks, non-[included in gnomAD]v2, non TopMED) if that helps suite your purpose or helps any investigation.

Let me know if that answers (or helps answer) your question, and please let us know if you have any other comments, questions, or concerns about using our database!

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