More intriguing were the 43 participants who had disease-causing genotypes, but were healthy.
Further investigation found biochemical evidence, symptoms, or telling characteristics.
Figuring out all the interactions that underlie gene expression is a challenge that dwarfs that of sequencing the first human genome, and the effort is underway. Now that’s precision medicine.
My comment: RNA-directed DNA methylation and RNA-mediated amino acid substitutions link metabolic networks and genetic networks. Learning about RNA-mediated cell type differentiation is the key to precision medicine. The missing links from nutritional epigenetics to pharmacogenomics attest to the futility of practicing evolutionary medicine without knowing how cell type differentiation was biophysically constrained by nutrient uptake and the nutrient-dependent control of the physiology of reproduction.
One sentence from the news release grabbed me: “The result is evolution from simpler to more complex and diverse organisms in both form and function, without the need to invoke genes.” Instead, Drs. Annila and Baverstock invoke thermodynamics.
Genetics is, however, only a statistical association between something we had to infer and something we could observe.
Excerpt from my March 24, 2014 comment:
Perhaps theorists will now address how mutations lead to species diversity in cases where they do not lead to physical diseases and mental disorders. The duality of their proposed function(s) still goes far beyond my ability to grasp in the context of biologically-based receptor-mediated cause and effect.
See also the comments by Keith Baverstock. Serious scientists rarely comment on works that attest to how much pseudoscientific nonsense continues to be touted by evolutionary theorists. The organization of genomes does not start with genes. It starts from the ability of cell types to differentiate between self and non-self differences. That ability links the anti-entropic epigenetic effects of nutrient-dependent microRNAs to the control of DNA damage caused by viruses and viral microRNAs that perturb thermodynamic cycles of protein biosynthesis and degradation. The mutations that link perturbed protein folding to pathology may not always do so, but mutations are never beneficial except in the ridiculous misrepresentations of biologically-based cause and effect that continue to be made by theorists.
See, for example: “…genomic conservation and constraint-breaking mutation is the ultimate source of all biological innovations and the enormous amount of biodiversity in this world.” Mutation-Driven Evolution
That statement links the misrepresentations of theorists to what serious scientists are doing. They are: Combating Evolution to Fight Disease