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Genome-wide association studies have greatly improved our understanding of the genetic basis of disease risk. The fact that they tend not to identify more than a fraction of the specific causal loci has led to divergence of opinion over whether most of the variance is hidden as numerous rare variants of large effect or as common variants of very small effect. Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled.
School of Biology and Center for Integrative Genomics, 770 State Street, Georgia Institute of Technology, Atlanta, Georgia 30332, USA.
This article was published in the following journal.
Name: Nature reviews. Genetics
Genome-wide association studies have identified over one hundred common genetic risk variants associated with type 2 diabetes (T2D). However, most of the heritability of T2D has not been accounted for...
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A cyclic nucleotide phosphodiesterase subfamily that is found predominantly in inflammatory cells and may play role in regulation of CELL-MEDIATED IMMUNITY. The enzyme family includes over twenty different variants that occur due to multiple alternative splicing of the mRNA of at least four different genes.
The branch of medicine dealing with the fetus and infant during the perinatal period. The perinatal period begins with the twenty-eighth week of gestation and ends twenty-eight days after birth. (From Dorland, 27th ed)
Naturally occurring genetic variations associated with drug response (e.g., dosage, extent and rate of metabolic processes). While these variants are not markers for GENETIC PREDISPOSITION TO DISEASE they influence PHARMACOKINETICS and pharmacodynamics and often occur on genes encoding drug metabolism enzymes and transporters (e.g., ANGIOTENSIN CONVERTING ENZYME; CYTOCHROME P-450 CYP2D6).
Twenty-carbon compounds derived from MEVALONIC ACID or deoxyxylulose phosphate.
A group of elements that include SCANDIUM; YTTRIUM; and the LANTHANOID SERIES ELEMENTS. Historically, the rare earth metals got their name from the fact that they were never found in their pure elemental form, but as an oxide. In addition they were very difficult to purify. They are not truly rare and comprise about 25% of the metals in the earth's crust.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...