Pick a phenotype from the GWAS Bot on Twitter or Biobank Japan or FinnGen.

You’re going to interpret the results, specifically the Manhattan plot, by finding and reporting the following information.

  1. A link to the Manhattan plot you’ll be interpreting (link to the tweet or the Biobank Japan or FinnGen page).

  2. Provide AT LEAST the name of the phenotype being analyzed. If there are details about the phenotype (its definition, measurement, distribution, range), describe those here (the available details will differ, so describe what you can).

  3. The sample size of the GWAS, which should usually appear at the top of the tweet’s image or at the top of the webpage; split into cases & controls if that’s how it’s reported (i.e. for a binary outcome)

  4. A brief description of the participants, whatever you can figure out. Most will be from the UK Biobank or FinnGen or Biobank Japan, some will specify a listing of ancestry groups included.

  5. Is there at least one significant (p < 5 E -8) association?

    • If no, describe how you can tell.

    • If yes, give the nearest gene (should be labeled on the plot next to the p-value peak) and the chromosome it is located on. Look up the gene and tell us if you see anything interesting about that gene - does it do something?

  6. Whether or not there is a significant SNP, choose one of the following options:

    • Click through the top-SNP details (often the last link in the tweet, or you can search a reported rs number in dbSNP at https://www.ncbi.nlm.nih.gov/snp/Links to an external site.), find and report on anything interesting you notice there (you may need to use a fairly inclusive definition of “interesting”).

    • If there are genetic correlations available (usually only embedded in a tweet for UK Biobank data, or you can look them up at https://ukbb-rg.hail.is/rg_browser/Links to an external site. by searching for the phenotype in the Phenotype 1 box, then click the linked name in the search result to bring up the full set of genetic correlations), report one genetic correlation you see (it could be the largest, or maybe the most interesting to you - dealer’s choice).

Next: 5.0. Height: A Model Phenotype

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