What we aren't teaching our genetics students

My new copy of Strachan and Read's textbook on Human Molecular Genetics arrived yesterday. I have always thought that this was a clearly written book that provides a nice overview of human genetics from more of a molecular point of view.

The first thing I turned to was the chapter on genetic association studies to see how they present genome-wide association studies (GWAS). The description of what a GWAS is was not bad. However, the context of the discussion was very much the status quo with text on the limitations on GWAS that very much focused on common variants vs. rare variants. There was no discussion whatsoever on genetic arcitecture and the complexity of the genotype-phenotype relationship due to penomena such as epistasis. I immediately went to the index to look for the word epistasis and found one entry on page 71. This turns out to be a very brief mention of epistasis as gene A controlling gene B as a cause of locus heterogeneity. That is it.

It is indeed disappointing to see a modern human genetics textbook fail to rigorously present and discuss the complexity of genetic architecture. Nothing has changed since I was a graduate student in the 1990s. At least the 4th edition lists epistasis in the index. It did not appear at all in the 3rd edition. I guess this is progress.