ABOUT BOOK

Genome-wide association studies have successfully identified a growing number of ~common variants that robustly associate with a wide range of complex diseases and ~phenotypes. In the majority of cases though, the variants are predicted to have small to ~modest effect sizes, and, due to the technologies used, many of the signals discovered ~so far may not be the causal loci. As rare variation studies begin to explore the lower ~ranges of the allele frequency spectrum, using whole genome or whole exome ~sequencing to capture a larger proportion of variants, we expect to find variants with a ~more direct causal role in the phenotype(s) of interest. Interpreting possible functional ~mechanisms linking variants with phenotypes will become increasingly important.