ArticleGenetic epidemiology2013
The impact of improved microarray coverage and larger sample sizes on future genome-wide association studies.
Article in Genetic epidemiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.European journal of human genetics : EJHG · 2016Pooled it
- A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.European journal of human genetics : EJHG · 2014Pooled it
- Polygenic inheritance of paclitaxel-induced sensory peripheral neuropathy driven by axon outgrowth gene sets in CALGB 40101 (Alliance).The pharmacogenomics journal · 2014Trial
- A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations.Scientific reports · 2022Article
- Rare Coding Variants Associated with Breast Cancer.Advances in experimental medicine and biology · 2021Article
- The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.Scientific reports · 2019Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies.G3 (Bethesda, Md.) · 2018Article
- Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.Molecular psychiatry · 2017Article
- Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration.European journal of human genetics : EJHG · 2016Article
- Strategies for Imputing and Analyzing Rare Variants in Association Studies.Trends in genetics : TIG · 2015Review
- Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.European journal of human genetics : EJHG · 2015Article
- GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database.Bioinformatics (Oxford, England) · 2014Article
- Imputation-based genomic coverage assessments of current human genotyping arrays.G3 (Bethesda, Md.) · 2013Article
- Studies on the pathophysiology and genetic basis of migraine.Current genomics · 2013Article
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Authors and funding
4 authors.
Funding
Abstract
Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with complex traits. However, the genetic heritability of most of these traits remains unexplained. To help guide future studies, we address the crucial question of whether future GWAS can detect new SNP associations and explain additional heritability given the new availability of larger GWAS SNP arrays, imputation, and reduced genotyping costs. We first describe the pairwise and imputation coverage of all SNPs in the human genome by commercially available GWAS SNP arrays, using the 1000 Genomes Project as a reference. Next, we describe the findings from 6 years of GWAS of 172 chronic diseases, calculating the power to detect each of them while taking array coverage and sample size into account. We then calculate the power to detect these SNP associations under different conditions using improved coverage and/or sample sizes. Finally, we estimate the percentages of SNP associations and heritability previously detected and detectable by future GWAS under each condition. Overall, we estimated that previous GWAS have detected less than one-fifth of all GWAS-detectable SNPs underlying chronic disease. Furthermore, increasing sample size has a much larger impact than increasing coverage on the potential of future GWAS to detect additional SNP-disease associations and heritability.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.