snpXplorer: a web application to explore human SNP-associations and annotate SNP-sets

Sibship analysis of associations between SNP haplotypes and a continuous trait with application to mammographic density.

Haplotype-based association studies have been proposed as a powerful comprehensive approach to identify causal genetic variation underlying complex diseases. Data comparisons within families offer the additional advantage of dealing naturally with complex sources of noise, confounding and population stratification. Two problems encountered when investigating associations between haplotypes and ...

SNP sets and reading ability: testing confirmation of a 10-SNP set in a population sample.

A set of 10 SNPs associated with reading ability in 7-year-olds was reported based on initial pooled analyses of 100K SNP chip data, with follow-up testing stages using pooling and individual testing. Here we examine this association in an adolescent population sample of Australian twins and siblings (N = 1177) aged 12 to 25 years. One (rs1842129) of the 10 SNPs approached significance (P = .05...

GWAS Catalog: Exploring SNP-trait associations

Human genome variation: analysis, management and application of SNP data

Recently there has been considerable interest in the use of single nucleotide polymorphisms (SNP) for understanding the genetics of complex human diseases. The reasons are multiple. Firstly, SNPs are much more abundant than microsatellite polymorphisms (about once every 500-1000 base pairs 1) and hence are potentially more powerful in detecting linkage disequilibrium around disease loci. Second...

Poor Reproducibility of Allergic Rhinitis SNP Associations

Replication of reported associations is crucial to the investigation of complex disease. More than 100 SNPs have previously been reported as associated with allergic rhinitis (AR), but few of these have been replicated successfully. To investigate the general reproducibility of reported AR-associations in candidate gene studies, one Swedish (352 AR-cases, 709 controls) and one Singapore Chinese...