Evaluating coverage of genome-wide association studies.
- Authors
- Barrett, Jeffrey C; Cardon, Lon R
- Year
- 2006
- Journal
- Nature genetics
- PMID
- 16715099
- DOI
- 10.1038/ng1801
Genome-wide association studies involving hundreds of thousands of SNPs in thousands of cases and controls are now underway. The first of many analytical challenges in these studies involves the choice of SNPs to genotype. It is not practical to construct a different panel of tag SNPs for each study, so the first generation of genome-wide scans will use predefined, commercially available marker panels, which will in part dictate their success or failure. We compare different approaches in use today, and show that although many of them provide substantial coverage of common variation in non-African populations, the precise extent is strongly dependent on the frequencies of alleles of interest and on specific considerations of study design. Overall, despite substantial differences in genotyping technologies, marker selection strategies and number of markers assayed, the first-generation high-throughput platforms all offer similar levels of genome coverage.
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| Designing candidate gene and genome-wide case-control association studies. | Zondervan KT et al. | β | 2007 | β |
| Differential dropout among SNP genotypes and impacts on association tests. | Hao K et al. | β | 2007 | β |
| Effects of environment, genetics and data analysis pitfalls in an esophageal cancer genome-wide association study. | Statnikov A et al. | β | 2007 | β |
| Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation. | MΓ€gi R et al. | β | 2007 | β |
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| Family-based association tests for genomewide association scans. | Chen WM et al. | β | 2007 | β |
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| Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. | Gudmundsson J et al. | β | 2007 | β |
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| Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis. | Steer S et al. | β | 2007 | β |
| IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease. | Tremelling M et al. | β | 2007 | β |
| Information capture using SNPs from HapMap and whole-genome chips differs in a sample of inflammatory and cardiovascular gene-centric regions from genome-wide estimates. | Wallace C et al. | β | 2007 | β |
| Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease. | Evangelou E et al. | β | 2007 | β |
| Mining the genome for susceptibility to diabetic nephropathy: the role of large-scale studies and consortia. | Iyengar SK et al. | β | 2007 | β |
| Non-replication and inconsistency in the genome-wide association setting. | Ioannidis JP | β | 2007 | β |
| On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studies. | Khoury MJ et al. | β | 2007 | β |
| Platelet genomics and the risk of atherothrombosis. | Ouwehand WH et al. | β | 2007 | β |
| Power analysis for genome-wide association studies. | Klein RJ | β | 2007 | β |
| Power to detect risk alleles using genome-wide tag SNP panels. | Eberle MA et al. | β | 2007 | β |
| Prediction of individual genetic risk to disease from genome-wide association studies. | Wray NR et al. | β | 2007 | β |
| Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. | Browning SR et al. | β | 2007 | β |
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| Systematic association mapping identifies NELL1 as a novel IBD disease gene. | Franke A et al. | β | 2007 | β |
| Tag SNPs chosen from HapMap perform well in several population isolates. | Service S et al. | β | 2007 | β |
| Tag SNP selection for candidate gene association studies using HapMap and gene resequencing data. | Xu Z et al. | β | 2007 | β |
| The application of the HapMap to diabetic nephropathy and other causes of chronic renal failure. | Iyengar SK et al. | β | 2007 | β |
| The search for peripheral disease markers in psychiatry by genomic and proteomic approaches. | Domenici E et al. | β | 2007 | β |
| Whole genome amplification of DNA extracted from hair samples: potential for use in molecular epidemiologic studies. | Leanza SM et al. | β | 2007 | β |
| Whole genome genotyping technologies on the BeadArray platform. | Steemers FJ et al. | β | 2007 | β |
| A gene-centric approach to genome-wide association studies. | Jorgenson E et al. | β | 2006 | β |
| Agnosticism and equity in genome-wide association studies. | Carlson CS | β | 2006 | β |
| A high-resolution survey of deletion polymorphism in the human genome. | Conrad DF et al. | β | 2006 | β |
| Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. | Gibbs JR et al. | β | 2006 | β |
| Aspects of genetic susceptibility to human infectious diseases. | Hill AV | β | 2006 | β |
| A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. | Conrad DF et al. | β | 2006 | β |
| Common genetic variants for breast cancer: 32 largely refuted candidates and larger prospects. | Ioannidis JP | β | 2006 | β |
| Functional genomics and its implications for molecular medicine. | Broeckel U et al. | β | 2006 | β |
| Genomics meets HIV-1. | Telenti A et al. | β | 2006 | β |
| Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. | Elbaz A et al. | β | 2006 | β |
| Whole genome association mapping by incompatibilities and local perfect phylogenies. | Mailund T et al. | β | 2006 | β |