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  2. Association mapping - Wikipedia

    en.wikipedia.org/wiki/Association_Mapping

    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.

  3. Quantitative trait locus - Wikipedia

    en.wikipedia.org/wiki/Quantitative_trait_locus

    QTL location is indicated only by looking at which markers give the greatest differences between genotype group averages, and the apparent QTL effect at a marker will be smaller than the true QTL effect as a result of recombination between the marker and the QTL. Second, we must discard individuals whose genotypes are missing at the marker.

  4. Expression quantitative trait loci - Wikipedia

    en.wikipedia.org/wiki/Expression_quantitative...

    The only considerable difference is that eQTL studies can involve a million or more expression microtraits. Standard gene mapping software packages can be used, although it is often faster to use custom code such as QTL Reaper or the web-based eQTL mapping system GeneNetwork.

  5. Genome-wide association study - Wikipedia

    en.wikipedia.org/wiki/Genome-wide_association_study

    Now, many GWAS control for genotyping array. If there are substantial differences between groups on the type of genotyping array, as with any confounder, GWA studies could result in a false positive. Another consequence is that such studies are unable to detect the contribution of very rare mutations not included in the array or able to be imputed.

  6. Candidate gene - Wikipedia

    en.wikipedia.org/wiki/Candidate_gene

    The candidate gene approach to conducting genetic association studies focuses on associations between genetic variation within pre-specified genes of interest, and phenotypes or disease states. This is in contrast to genome-wide association studies (GWAS), which is a hypothesis-free approach that scans the entire genome for associations between ...

  7. Complex traits - Wikipedia

    en.wikipedia.org/wiki/Complex_traits

    A GWAS is done with populations that mate randomly because all the genetic variants are tested at once. Then researchers can compare the different alleles at a locus. It is similar to QTL mapping. [20] The most common set-up for a GWAS is a case study which creates two populations one with the trait we are looking at and one without the trait.

  8. Genetic architecture - Wikipedia

    en.wikipedia.org/wiki/Genetic_architecture

    Genetic architecture is the underlying genetic basis of a phenotypic trait and its variational properties. [1] Phenotypic variation for quantitative traits is, at the most basic level, the result of the segregation of alleles at quantitative trait loci (QTL). [2]

  9. Transcriptome-wide association study - Wikipedia

    en.wikipedia.org/wiki/Transcriptome-wide...

    A genome-wide association study, or GWAS, is a genetic tool that uses single nucleotide polymorphisms, or SNPs, to identify if a trait or disease is linked to a specific genetic variant. By observing if frequencies of a specific variant are more commonly associated, or higher than expected, with the given trait; an association is developed ...