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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Whole-genome association studies (WGAS) bring new computational, as well as analytic, challenges to researchers. Many existing genetic-analysis tools are not designed to handle such large data setsExpand
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Haploview: analysis and visualization of LD and haplotype maps
Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface. Expand
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The Genotype-Tissue Expression (GTEx) project
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associatedExpand
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The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Expression, genetic variation, and tissues Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulationExpand
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Integrated detection and population-genetic analysis of SNPs and copy number variation
Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number variants (CNVs), and is enabled by accurate maps of their locations,Expand
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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially toExpand
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Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantiallyExpand
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address thisExpand
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Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
To identify susceptibility alleles associated with rheumatoid arthritis, we genotyped 397 individuals with rheumatoid arthritis for 116,204 SNPs and carried out an association analysis in comparisonExpand
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A Fine-Scale Chimpanzee Genetic Map from Population Sequencing
Going Ape Over Genetic Maps Recombination is an important process in generating diversity and producing selectively advantageous genetic combinations. Thus, changes in recombination hotspots mayExpand
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