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This article mainly introduces the relevant knowledge of "what are the nouns in GWAS and genetic evolution". The editor shows you the operation process through practical cases, the operation method is simple, fast and practical. I hope this article "what are the nouns in GWAS and genetic evolution" can help you solve the problem.

GWAS and explanation of some nouns in genetic Evolution

Noun interpretation

Linkage disequilibrium (LD) linkage disequilibrium: a measure of nonrandom associations between alleles at different loci on the same chromosome in a given population. When the association frequency of alleles is higher than the expected frequency under random classification, SNP is located in LD. LD deals with patterns between SNP.

Minor allele frequency (MAF) minimum allele frequency: this is the frequency of the allele with the lowest frequency at a particular location. The power in most studies is not sufficient to detect the association between phenotype and SNP with low MAF, so these SNP need to be filtered.

Population structure group structure: whether there are multiple subgroups in the study (for example, individuals with different ethnic backgrounds). Because allele frequencies may vary among subpopulations, population stratification may lead to false positive associations and / or mask real associations. The chopstick gene is a good example. The phenomenon of population stratification leads to the conclusion that SNP can be used to explain the habit of eating with chopsticks [2].

Single nucleotide polymorphism (SNP) single nucleotide polymorphism: a single nucleotide variation occurring at a specific location in the genome. SNP usually exists in two different forms (for example, An and T). These different forms are called alleles. SNP, which contains two alleles, has three different genotypes (for example, AA,AT and TT).

Hardy-Weinberg law: in an ideal situation, the frequency of each allele is stable in inheritance, that is, the gene balance is maintained. The law is applied to biology, ecology and genetics. Conditions: ① population is large enough; ② population is random mating; ③ has no mutation; ④ has no selection; ⑤ has no migration; ⑥ has no genetic drift. [3] violation of HWE's rule indicates that the genotype frequency is significantly different from the expected value (for example, if the frequency of allele An is 0.20, the frequency of allele T is 0.80; the expected frequency of genotype AT is 2 * 0.2 * 0.8 = 0.32), and the observed frequency should not be significantly different. In GWAS, it is usually assumed that the difference from HWE is the result of genotyping errors. The HWE threshold in the case is usually not as stringent as that in the control group, because a violation of the HWE rule can be indicated in the case.

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