GWAS綜述1(不同血緣群體)Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities錛 Methods錛 Pitfalls錛 and Recommendations全基因組關聯研究(GWASs)主要關注歐洲血統的人群,但重要的是要更好地代表多樣化的人群。增加研究參與者的多樣性將促進我們對所有人群遺傳結構的理解,並確保遺傳研究具有廣泛的適用性。為了促進和促進多血統和混合群體的研究,我們概述了主要的方法學考慮,並強調了機會、挑戰、解決方案和需要發展的領域。盡管人們認為分析來自不同人群的遺傳數據是困難的,但在科學和倫理上這是必須的,
謝謝)專用術語Admixed Population: A population of individuals with ancestors from two or more populations. Admixed can also be used to refer to individuals.Fine-mapping: Analytical procedures designed to refine GWAS loci to a smaller set of likely causal-variant candidates to facilitate interpretation and follow-up studies.Genetic Correlation: The correlation of genome-wide genetic effects between two phenotypes錛 which is often estimated for a subset of genomic variants (e.g. SNPs in a GWAS).Genotype Imputation: Estimation of genotypes at genetic sites that have not been directly measured錛 using data from a reference panel to infer genotypes based on LD and haplotype structures. Accuracy depends on availability of suitable reference panels. GWAS: Genome-wide association study. Analysis of common genetic variants across the whole genome for association with a phenotype.GxE: Gene-by-environment interaction refers to genetic effects on a phenotype that vary based on environment or vice versa. Haplotype: A group of alleles that are correlated with one another because they are inherited together on a chromosome. HWE: Hardy-Weinberg equilibrium錛 the expected balance of genotypes within a population assuming random mating; infinite population size; and no mutation錛 migration錛 or selection. Tests of deviations from HWE are used in quality control to detect technical issues with genotyping. Note that there are also non-technical reasons for deviation from HWE (e.g.錛 selection錛 population structure錛 admixture錛 non-random mating).LD: Linkage disequilibrium. Alleles in LD are physically linked on a chromosome錛 which leads to non-random coinheritance such that their frequencies in a population are correlated.Major Population: A group of individuals with shared genetic ancestry. A heuristic simplification of the complexity of human demography錛 but useful for describing groups that are likely to have relatively similar allele frequencies and LD patterns due to shared ancestry. Common examples used in practice include continental ancestry groups or ‘‘super populations’’ as defined by the 1000 Genomes Project (e.g.錛 African錛 Admixed American錛 East Asian).PCA: Principal-component analysis. PCA of genotype data is commonly used to examine population structure in a cohort by determining the average genome-wide genetic similarities of individual samples. Derived PCs can be used to group individuals with shared genetic ancestry錛 to identify outliers錛 and as covariates錛 to reduce false positives due to population stratification. Population Stratification: Underlying population structure within a sample that is correlated with a phenotype錛 which can confound genetic association tests.PRS: Polygenic risk score. A value computed from an individual’s genotype data that quantifies genetic influences on a particular phenotype; also known as polygenic score (PGS)錛 genetic risk score (GRS)錛 or risk profile score (RPS).Reference Panel: A set of genetic variants from a population. Reference panels are used to design arrays錛 impute genotypes錛 catalogue genetic variants錛 and identify regions that are similar and different among populations.SNP Heritability: Proportion of phenotypic variance that is explained by additive genetic effects of a set of SNPs.文章鏈接:https://doi.org/10.1016/j.cell.2019.08.051在人類所了解的電磁波譜中,太赫茲波介于微波與紅外光之間,其頻率範圍通常為0.1~10 THz,