Genetic association

association studiesassociationassociation analysesassociatedassociationsdisease-associated genesGenome association studies
Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence.wikipedia
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Whole genome sequencing

genome sequencingfull genome sequencingsequenced
Genetic association studies today are based on the principle that genotypes can be compared "directly", i.e. with the sequences of the actual genomes or exomes via whole genome sequencing or whole exome sequencing.
The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response.

Single-nucleotide polymorphism

single nucleotide polymorphismSNPSNPs
Genetic association can be between phenotypes, such as visible characteristics such as flower colour or height, between a phenotype and a genetic polymorphism, such as a single nucleotide polymorphism (SNP), or between two genetic polymorphisms.

Haploid-relative-risk

haplotype relative risk (HRR)
Two similar tests are most commonly used, the transmission disequilibrium test (TDT) and haploid-relative-risk (HRR).
The Haplotype-relative-risk (HRR) method is a family-based method for determining gene allele association to a disease in the presence of actual genetic linkage.

Association mapping

Haplotype tagginglinkage disequilibrium mappinglinkage scans
Association mapping (genetics), also known as "linkage disequilibrium mapping", is a method of mapping quantitative trait loci (QTLs) that takes advantage of historic linkage disequilibrium to link phenotypes (observable characteristics) to genotypes (the genetic constitution of organisms), uncovering genetic associations.

Transmission disequilibrium test

Two similar tests are most commonly used, the transmission disequilibrium test (TDT) and haploid-relative-risk (HRR).
A specificity of the TDT is that it will detect genetic linkage only in the presence of genetic association.

Genome-wide association study

genome-wide association studiesGWASGenome Wide Association Studies
A suggested alternative to linkage studies was the genetic association study.

Genotype

genotypesgenotypicgenotypically
Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence.

Phenotype

phenotypicphenotypesphenotypically
Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence.

Correlation and dependence

correlationcorrelatedcorrelations
Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence.

Allele

allelesallelicmultiple alleles
Studies of genetic association aim to test whether single-locus alleles or genotype frequencies (or more generally, multilocus haplotype frequencies) differ between two groups of individuals (usually diseased subjects and healthy controls).

Haplotype

haplotypeshaplotypinghaploblock structure
Studies of genetic association aim to test whether single-locus alleles or genotype frequencies (or more generally, multilocus haplotype frequencies) differ between two groups of individuals (usually diseased subjects and healthy controls).

Treatment and control groups

control groupcontrol groupstreatment group
Studies of genetic association aim to test whether single-locus alleles or genotype frequencies (or more generally, multilocus haplotype frequencies) differ between two groups of individuals (usually diseased subjects and healthy controls).

Genome

genomesgenetic materialgenomic
Genetic association studies today are based on the principle that genotypes can be compared "directly", i.e. with the sequences of the actual genomes or exomes via whole genome sequencing or whole exome sequencing.

Exome

exomes
Genetic association studies today are based on the principle that genotypes can be compared "directly", i.e. with the sequences of the actual genomes or exomes via whole genome sequencing or whole exome sequencing.

Exome sequencing

Whole exome sequencingwhole-exome sequencingexome
Genetic association studies today are based on the principle that genotypes can be compared "directly", i.e. with the sequences of the actual genomes or exomes via whole genome sequencing or whole exome sequencing.

Genetic linkage

linkage analysislinkagelinked
Association between genetic polymorphisms occurs when there is non-random association of their alleles as a result of their proximity on the same chromosome; this is known as genetic linkage.

Linkage disequilibrium

linkage equilibriumLDlinkage
Linkage disequilibrium (LD) is a term used in the study of population genetics for the non-random association of alleles at two or more loci, not necessarily on the same chromosome.

Genetic marker

genetic markersmarkermarkers
LD describes a situation in which some combinations of alleles or genetic markers occur more or less frequently in a population than would be expected from a random formation of haplotypes from alleles based on their frequencies.

Case–control study

case-control studiescase-controlcase-control study
Case control studies are a classical epidemiological tool.

Population stratification

population structurestratificationStratification for prevention and therapy
If the case and control populations are not well matched for ethnicity or geographic origin then false positive association can occur because of the confounding effects of population stratification.

Quantitative trait locus

quantitative trait lociQTLQTL mapping
A quantitative trait (see quantitative trait locus) is a measurable trait that shows continuous variation, such as height or weight.

GWAS Central

GWAS Central (previously HGBASE, HGVbase and HGVbaseG2P) is a publicly available database of summary-level findings from genetic association studies in humans, including genome-wide association studies (GWAS).