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Association mapping has been most widely applied to the study of human disease, specifically in the form of a genome-wide association study (GWAS). A genome-wide association study is performed by scanning an entire genome for SNPs associated with a particular trait of interest, or in the case of human disease, with a particular disease of interest.
Hence, GWAS is a non-candidate-driven approach, in contrast to gene-specific candidate-driven studies. GWA studies identify SNPs and other variants in DNA associated with a disease, but they cannot on their own specify which genes are causal. [1] [2] [3] The first successful GWAS published in 2002 studied myocardial infarction. [4]
Over the years, the GWAS catalog has enhanced its data release frequency by adding features such as graphical user interface, ontology-supported search functionality and a curation interface. [3] The GWAS catalog is widely used to identify causal variants and understand disease mechanisms by biologists, bioinformaticians and other researchers.
In statistical genetics, linkage disequilibrium score regression (LDSR [1] or LDSC [2]) is a technique that aims to quantify the separate contributions of polygenic effects and various confounding factors, such as population stratification, based on summary statistics from genome-wide association studies (GWASs).
The plot is commonly used in genome-wide association studies (GWAS) to display significant SNPs. [ 1 ] It gains its name from the similarity of such a plot to the Manhattan skyline : a profile of skyscrapers towering above the lower level "buildings" which vary around a lower height.
The y-axis (vertical axis) indicates how many in each group are assigned a certain score. + At the right panel, the same population is divided into three groups according to their predicted risk, i.e., their assigned score, as high (red), middle (gray), or low (blue). The y-axis shows the observed risk amounts, where the x-axis shows the groups ...
In genome-wide association studies, genome-wide significance (abbreviated GWS) is a specific threshold for determining the statistical significance of a reported association between a given single-nucleotide polymorphism (SNP) and a given trait.
Population structure is an important aspect of evolutionary and population genetics. Events like migrations and interactions between groups leave a genetic imprint on populations. Admixed populations will have haplotype chunks from their ancestral groups, which gradually shrink over time because of recombination. By exploiting this fact and ...