WTF (What's The Function?)

Jay Shendure’s editorial, “Life after genetics”, points out that we, as geneticists, should shift our focus from variant-finding (e.g., GWAS) to understanding the functional implications of disease-associated variants:

“We are in a period of rich discovery in human genetics and genomics. The ascertainment of genetic variation, previously the rate-limiting step for genetic analysis, has been revolutionized by new technologies for high-density genotyping, exome sequencing and genome sequencing.

Amid this success, it is important to remember that genetics is a means to one or several ends (such as a biological understanding of disease mechanisms, or identifying the basis of disease in a specific patient) rather than an end in itself. The ultimate impact of our field will depend not only on whether we can get the genetics right, but also on whether or not subsequent goals are achieved.”

The editorial is aimed at human geneticists, but the message rings true for all who study genetics – molecular ecologists included. Finding a genotype-phenotype association is just the first step. We should strive for a more in depth and comprehensive understanding.
Shendure’s editorial highlights some potential ways to bridge the gap between genotype and function. One possible route is the using the rapidly developing in vitro genome editing techniques, such as CRISPR/Cas9.
One could easily extend this editorial to include other genomic-phenotype associations, including epigenetic modifications. Great, so you’ve found an association. What’s the function?
Jay Shendure. 2014. Life after genetics. Genome Medicine. doi:10.1186/s13073-014-0086-2.