The allelic architecture of human disease genes: common disease-common variant...or not?

By J. K. Pritchard, Nancy J. Cox. Human Molecular Genetics, 2002

743 citations recorded by the source corpus.

Subfields: Cell Biology, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/81e8833bace074ab995d6f5a5528b5e41534e113

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Dale R. Nyholt

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Citations in the corpus

Genome-wide association studies: theoretical and practical concerns (2005, background): “Allelic spectra of common diseases The allelic spectrum or architecture of a disease refers to the number of disease variants that exist, their allele frequencies and the risks that they confe”
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic (2009, background): “Note that permutation of disease status results in correct type I error even in the presence of linkage disequilibrium (LD) [29,30], although relatively low LD is expected between rare variants [26,31,32].”
Human genetic variation and its contribution to complex traits (2009, background): “Over the last decade or so the human genetics field has debate”
Genetic heterogeneity in human disease. (2010, background): “The genetic architecture of a disorder, i.e., the number and frequency of susceptibility alleles, is shaped by evolution- ll 141, April 16, 2010 ©2010 Elsevier Inc. 213 ary factors, including the impact of the illness on selection (Pritchard and Cox, 2002).”
Next-generation phenotyping: requirements and strategies for enhancing our understanding of genotype–phenotype relationships and its relevance to crop improvement (2013, background): “Association mapping studies, on the other hand, generally provide higher resolution of QTL for the same number of lines and evaluate a wider array of alleles but are limited by the inability to interrogate rare alleles or to dissect phenotypes that are perfectly correlated with population structure ”
A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. (2004, background): “, depending on the ascertainment method) (Pritchard and Cox 2002) all suggest that an initial investigation of a candidate gene or interval should test many SNPs individually for association.”
Uncovering the roles of rare variants in common disease through whole-genome sequencing (2010, background): “Over the past several years, this view has become less popular, at least with some in the research community, than the theory that common diseases are more strongly influenced by many common gene variants with small effects on ris”