Genome-wide association studies for common diseases and complex traits

By Joel Hirschhorn, Mark J. Daly. Nature reviews genetics, 2005

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View Paper: https://www.semanticscholar.org/paper/24aa16df87fcfdb540b13fa9b7007f4d95cbcf7f

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In Genetics

Citations in the corpus

Accuracy of Predicting the Genetic Risk of Disease Using a Genome-Wide Approach (2008, neutral): “The identification of very large numbers of single nucleotide polymorphisms (SNP) has enabled the use of genome-wide association studies (GWA) to detect alleles that are associated with risk for complex diseases [5], such as Type II Diabetes and Crohn’s disease [6].”
Discovering biomarkers associated and predicting cardiovascular disease with high accuracy using a novel nexus of machine learning techniques for precision medicine (2023, background): “Genetic studies have facilitated disease prognosis [3, 4], the identification of genetic regions and variants that influence disorders, and the functional assessment of these regions [5, 6, 7].”
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. (2007, background): “This approach aims at the detection of enrichment in rare, potentially deleterious missense SNPs in a patient group compared with a control group.(63,64) By considering the cumulative frequency of deleterious mutations rather than their individual frequencies, this method is suitable for investigati”
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer (2007, background): “In the past, family-based studies have been the primary focus of study in the search for genetic determinants, but with new technologies that enable analysis of hundreds of thousands of SNPs, together with new insights into the structure of variation in the human genome, it is now possible to scan t”
Ovarian aging: mechanisms and clinical consequences. (2009, background): “genome, new loci in the genome involved in regulation of the ovarian follicle pool may be found (309).”
Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits (2007, background): “We have taken advantage of recent advances in genotyping technology that enable detailed assessment of entire genomes [14,15].”
Genotype Imputation (2009, background): “More recently, technological advances have made genome-wide association studies (GWAS) possible (39, 67, 109).”
A Review of Ensemble Methods in Bioinformatics (2010, background): “Various computational techniques, especially machine learning algorithms [1], are applied, for example, to select genes or proteins associated with the trait of interest and to classify different types of samples in gene expression of microarrays data [2] or mass spectrometry (MS)-based proteomics d”
Genetic association mapping and genome organization of maize. (2006, background): “Systematic comparisons of these two different approaches have been reviewed elsewhere both in general [8 ] and more specifically in maize [7 ].”
Population genomics of human gene expression (2007, neutral): “Technological advances have now made genome-wide association studies a reasonable and affordable approach to the study of complex phenotype”
A unified mixed-model method for association mapping that accounts for multiple levels of relatedness (2006, methodology): “The mixed-model approach has the added advantage of being flexible, as it can be applied to both family-based and population-based sample”
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort (2010, background): “Genome-wide association studies (GWAS) are increasingly performed (Balding, 2006; Hirschhorn and Daly, 2005; Purcell et al., 2007; Zondervan and Cardon, 2007), but effectively relating high throughput SNP data to large scale image data remains a challenging task.”
Genome-wide association studies: theoretical and practical concerns (2005, neutral): “In an accompanying review in this journal, Hirschhorn and Dal”