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Open AccessJournal ArticleDOI

Genomic control for association studies.

Bernie Devlin, +1 more
- 01 Dec 1999 - 
- Vol. 55, Iss: 4, pp 997-1004
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TLDR
The performance of the genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders.
Abstract
A dense set of single nucleotide polymorphisms (SNP) covering the genome and an efficient method to assess SNP genotypes are expected to be available in the near future. An outstanding question is how to use these technologies efficiently to identify genes affecting liability to complex disorders. To achieve this goal, we propose a statistical method that has several optimal properties: It can be used with case control data and yet, like family-based designs, controls for population heterogeneity; it is insensitive to the usual violations of model assumptions, such as cases failing to be strictly independent; and, by using Bayesian outlier methods, it circumvents the need for Bonferroni correction for multiple tests, leading to better performance in many settings while still constraining risk for false positives. The performance of our genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders.

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Journal ArticleDOI

Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population

TL;DR: It is demonstrated that the rheumatoid arthritis–susceptible alleles of rs3766379 and rs6682654 and their haplotype increased their expression in luciferase and allele-specific transcript quantification assays, and may have a role in the autoimmune process shared by rhethritis and systemic lupus erythematosus.
Journal ArticleDOI

Association of GSK3β Polymorphisms With Brain Structural Changes in Major Depressive Disorder

TL;DR: The association of GSK3beta polymorphisms with structural variation in the temporal lobe and hippocampus is of particular interest in the context of other evidence for structural and functional abnormalities in the hippocampi of patients with MDD.
Journal ArticleDOI

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

TL;DR: The approach "re-discovered" genes previously implicated in IHH and introduced an approach for highly adaptable variant quality filtering that leads to well-calibrated results, and developed a user-friendly software package for performing gene-based burden testing against public databases.
Journal ArticleDOI

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

María Soler Artigas, +112 more
TL;DR: 14 novel loci are identified in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBx3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
References
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Book

Statistical Decision Theory and Bayesian Analysis

TL;DR: An overview of statistical decision theory, which emphasizes the use and application of the philosophical ideas and mathematical structure of decision theory.
Journal ArticleDOI

The Future of Genetic Studies of Complex Human Diseases

TL;DR: The identification of the genetic basis of complex human diseases such as schizophrenia and diabetes has proven difficult as mentioned in this paper, and Risch and Merikangas proposed that they can best accomplish this goal by combining the power of the human genome project with association studies.
Journal ArticleDOI

An Introduction to Population Genetics Theory

James F. Crow, +1 more
- 01 Sep 1971 - 
TL;DR: An introduction to population genetics theory, An introduction to Population Genetics Theory, Population Genetics theory, Population genetics theory as discussed by the authors, Population genetics, population genetics, and population genetics theories, Population Genetic Theory
Book

An introduction to population genetics theory

TL;DR: An introduction to population genetics theory, An introduction to Population Genetics theory, and more.
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