STRs influence gene expression in the GTEx cohort

We just published a paper[1] of our efforts to figure out which Short Tandem Repeats (STRs) are strongly associated with gene expression levels. We also show how these STR mediated changes in gene expression are (likely) the underlying causes of genetic associations with height and other complex traits. You can find the paper here. (You can also see a less edited but free version here if you do not have access to the Nature Genetics journal).

Due to length constraints, we had to cut many explanations from the final paper. However, I’d like anyone who wants to be able to read the paper, even if they only have a basic background in genetics and statistics. So I’ve written a glossary for those readers - whenever you come across a term or acronym that’s new to you, or a topic you don’t quite understand, feel free to look it up there. Hopefully this helps someone.

– Jonathan M.

[1] Fotsing, S.F., Margoliash, J., Wang, C. et al. The impact of short tandem repeat variation on gene expression. Nat Genet 51, 1652–1659 (2019) doi:10.1038/s41588-019-0521-9