![]() But excitement rapidly shifted to disappointment, as efforts to find the genetic variation underlying complex human diseases ended up explaining only a small fraction of the phenotypic variance. Īlmost two decades later, with millions of individuals genotyped across thousands of genome-wide association studies, it is now well acknowledged that things are not that simple. #HIGH LEVEL HEALTH OMER FULL#īut it is worth asking, why are they not, actually? Why have not we mapped most of the genetic variation underlying human traits, and why are we still unable to make accurate individual phenotypic predictions from genetic data? What are the concrete problems we are now facing, and what bottlenecks are slowing us down and preventing genetic research from unlocking its full potential? Asking these questions and attempting to answer them will allow us to make more effective progress and eventually achieve the field’s long-term potential. The domain of knowledge we are dealing with, mapping and understanding the genetic variation underlying human phenotypic variation, is a huge area of scientific inquiry. Among its main subdomains are as follows: (i) genetic association studies, which seek causal links between genetic elements and human traits, (ii) polygenic risk scores, which aim to predict traits from genetics, and (iii) heritability estimates, which estimate the fraction of a trait’s variance that is due to genetic variation. The primary applications of these research activities are twofold: (i) obtaining insight into the biological mechanism at the molecular and cellular level underlying the disease or trait under study, and (ii) making informed predictions that can be clinically useful, even in the absence of knowledge about mechanism or causality. Even if we do not understand why an individual is at high risk for heart disease, it is still useful to know that they are at such risk, especially if we can reliably quantify it. ![]() ![]() This review only deals with open problems directly related to the interface between genetics and human traits. Topics related to genetics but not to phenotypic variation in present-day humans (such as functional elements in the human genome, or questions of evolution, conservation, and fitness) are out of our main focus. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |