2022 papers
Published:
Paper 3: Effect sizes of causal variants for gene expression and complex traits differ between populations. Patel et al 2021.
Looking at admixed individuals to ask: do effect sizes of causal variants differ between populations? Foudn that local ancestry does improve variance explained in admixed individuals. Used a clever trick looking only at European ancestry regions in admixed individuals to compare effect sizes between EUR and AFR populations–effect sizes are significantly different for gene expression.
Paper 2: Mutation saturation for fitness effects at human CpG sites. Agarwal et al 2021.
Methylated CpG sites are close to saturated at current human genome/exome sample sizes (incredibly cool) which allows us to ask cool questions about selection on these. When your samples sizes are large enough, the absence of a mutation/variant is enough to say something about its functional importance. The paper also performs interesting ways to estimate limits on the number of generations captured by a population of X individuals.
Paper 1: Large-scale integration of the plasma proteome with genetics and disease. Ferkingstad et al 2021.
A huge pQTL association gives us 1) a valuable new dataset to identify disease-associated genes by adding in protein expression levels into the mix with gene expression levels. 2) Gives an insight that could be useful: tissue-specific genes can be identified even in a tissue like blood when measuring pQTLs (proteins move between tissues).