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A fundamental difference between GWAS and PheWAS designs is the direction of inference: in a PheWAS it is from exposure (the DNA variant) to many possible outcomes, that is, from SNPs to differences in phenotypes and disease risk. In a GWAS, the polarity of analysis is from one or a few phenotypes to many possible DNA variants. [3]
Unwarranted variations in medical practice refer to the differences in care that cannot be explained by the illness/medical need or by patient preferences. The term “unwarranted variations” was first coined by Dr. John Wennberg when he observed small area (geographic) and practice style variations, which were not based on clinical rationale ...
A challenge for future successful GWA study is to apply the findings in a way that accelerates drug and diagnostics development, including better integration of genetic studies into the drug-development process and a focus on the role of genetic variation in maintaining health as a blueprint for designing new drugs and diagnostics. [48]
Human genetic variation is the genetic differences in and ... between individuals. Each variant acts ... in the US for public health and policy ...
Genetic variation is the difference in DNA among individuals [1] or the differences between populations among the same species. [2] The multiple sources of genetic variation include mutation and genetic recombination. [3] Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as ...
The term "variant' is favored in clinical practice over "mutation" because it can be used to describe an allele more precisely (i.e. without inherently connoting pathogenicity). When the variant has no impact on health, it is called a "benign variant". When it is associated with a disease, it is called a "pathogenic variant".
According to the CD-CV hypothesis, some of those variants lead to susceptibility to complex polygenic diseases. Each variant at each gene influencing a complex disease will have a small additive or multiplicative effect on the disease phenotype. These diseases, or traits, are evolutionarily neutral in part because so many genes influence the ...
Unwarranted variation (or geographic variation) in health care service delivery refers to medical practice pattern variation that cannot be explained by illness, medical need, or the dictates of evidence-based medicine. It is one of the causes of low value care often ignored by health systems.