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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
Approximately 80 genes in the human genome code for pore-forming subunits of potassium (K(+)) channels. Rare variants (mutations) in K(+) channel-encoding genes may cause heritable arrhythmia syndrome...
OBJECTIVE Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease. The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 (RNF213); ...
Alzheimer disease (AD) is a remarkable example of genetic heterogeneity. Extremely rare variants in the APP, PSEN1, or PSEN2 genes, or duplications of the APP gene cause autosomal dominant forms, gene...
Onychomatricoma is a rare benign fibroepithelial filamentous tumor originating from the nail matrix. It typically presents with the clinical tetrad of xanthonychia, pachyonychia, proximal splinter hem...
The role of rare alleles in complex phenotypes has been hotly debated, but most rare variant association tests (RVATs) do not account for the evolutionary forces that affect genetic architecture. Here...
Type 2 diabetes is a common metabolic disorder arising from a complex interaction between genetic predisposition and the environment. The development of this disorder is preceded by impair...
Identify novel genetic variants causing skeletal dysplasia in Qatari populations and to additionally develop an understanding of how those variants influence skeletal biology at a molecula...
Despite advances in the management of and changes in clinical practice, little is known about the epidemiology, patterns of care and outcomes of rare peritoneal surface malignancies patien...
Depressive and anxiety disorders (termed as 'Common Mental Disorders') affect as many as one in four persons attending primary care; most patients do not receive effective treatments. Alth...
The recognition of the association between circulating C-reactive protein (CRP) levels and risk of coronary heart disease (CHD) has led to an increased emphasis on CRP genetic effects on C...
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)
Twenty-carbon compounds derived from MEVALONIC ACID or deoxyxylulose phosphate.
Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.
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...