A comprehensive review of genetic association studies

By Joel Hirschhorn, K. Lohmueller, E. Byrne, K. Hirschhorn. Genetics in Medicine, 2002

1,784 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/bfe9c74a3abe5169ff2e61ff2668ab16457673d0

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In Genetics

Citations in the corpus

Traversing the conceptual divide between biological and statistical epistasis: systems biology and a more modern synthesis. (2005, background): “Using this argument, Wade((47)) and others((49)) have suggested that the lack of replication observed for association studies((50)) is a signature of epistasis.”
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. (2005, background): “Exclusion criteria were Asian or African descent (36 patients), management by telephone rather than in person (185), absence of verbal and written consent (5), absence of a blood specimen (3), and absence of a confirmed date of initial exposure to warfarin (11).”
The future of association studies: gene-based analysis and replication. (2004, background): “In a heroic study, Hirschhorn et al. (2002) conducted a meta-analysis of 166 initial association findings and their subsequent attempted replications, for a large number of complex disorders .”
Overcoming the winner's curse: estimating penetrance parameters from case-control data. (2007, methodology): “For each parameter set, we simulated 100 significant association studies of 400 affected and 400 unaffected individuals and obtained three estimates of the penetrance parameters: (1) without correcting for the ascertainment effect, (2) with application of the algorithm described earlier to correct f”
Genome-wide association studies for common diseases and complex traits (2005, background): “Candidate-gene association studies have identified many of the genes that are known to contribute to susceptibility to common diseas”
PLINK: a tool set for whole-genome association and population-based linkage analyses. (2007, background): “However, the strategies of the past decade have met with limited success.(3,4) One possible reason for the lack of identified complextrait disease genes is that studies have still been lacking in sample size and genome coverage.”
The Ubiquitous Nature of Epistasis in Determining Susceptibility to Common Human Diseases (2003, neutral): “Hirschhorn et al. [2002] recently reviewed more”
Meta‐analysis of the association between a serotonin transporter promoter polymorphism (5‐HTTLPR) and anxiety‐related personality traits (2004, background): “This inconsistency is typical for association studies involving complex traits [Hirschhorn et al., 2002].”
Spatially Uniform ReliefF (SURF) for computationally-efficient filtering of gene-gene interactions (2009, background): “This, combined with the knowledge that single-locus results have not frequently replicated for common human diseases [7,8], indicates that methods to detect and characterize epistasis are likely to be critical to understanding the genetic basis of common human disease.”
Natural selection on genes that underlie human disease susceptibility. (2008, methodology): “First, we used compilations in three surveys of association studies [2, 22, 23].”
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease (2003, background): “From 166 frequently studied associations between common variants and common disease”
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease (2003, result): “One can draw a similar conclusion from a recent review by Hirschhorn et al”
Molecular diversity and genome-wide linkage disequilibrium patterns in a worldwide collection of Oryza sativa and its wild relatives (2008, background): “manifest in populations with a particular environmental background (Hirschhorn et al. 2002).”
Finding the missing heritability of complex diseases (2009, background): “(5) Enhance power for identifying associated loci by studying affected sibs, particularly for conditions with substantial genetic heterogeneity.”
Epistasis: too often neglected in complex trait studies? (2004, neutral): “, leading to the speculation that epistasis could be a factor that contributes to the failure to replicate the results of many human ASSOCIATION STUDIES”