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Genome-wide Significance
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. The most commonly accepted threshold is ''p'' < 5 × 10−8, which is based on performing a for all the independent common SNPs across the . If a ''p''-value is found to be lower than this threshold in a genome-wide association study, the of no true SNP-association will typically be rejected. Howeve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genome-wide Association Studies
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as opposed to genotype-first. Each per ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Statistical Significance
In statistical hypothesis testing, a result has statistical significance when it is very unlikely to have occurred given the null hypothesis (simply by chance alone). More precisely, a study's defined significance level, denoted by \alpha, is the probability of the study rejecting the null hypothesis, given that the null hypothesis is true; and the ''p''-value of a result, ''p'', is the probability of obtaining a result at least as extreme, given that the null hypothesis is true. The result is statistically significant, by the standards of the study, when p \le \alpha. The significance level for a study is chosen before data collection, and is typically set to 5% or much lower—depending on the field of study. In any experiment or observation that involves drawing a sample from a population, there is always the possibility that an observed effect would have occurred due to sampling error alone. But if the ''p''-value of an observed effect is less than (or equal to) the significanc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Association (statistics)
In statistics, correlation or dependence is any statistical relationship, whether causal or not, between two random variables or bivariate data. Although in the broadest sense, "correlation" may indicate any type of association, in statistics it usually refers to the degree to which a pair of variables are ''linearly'' related. Familiar examples of dependent phenomena include the correlation between the height of parents and their offspring, and the correlation between the price of a good and the quantity the consumers are willing to purchase, as it is depicted in the so-called demand curve. Correlations are useful because they can indicate a predictive relationship that can be exploited in practice. For example, an electrical utility may produce less power on a mild day based on the correlation between electricity demand and weather. In this example, there is a causal relationship, because extreme weather causes people to use more electricity for heating or cooling. However ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Single-nucleotide Polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trait (biology)
A phenotypic trait, simply trait, or character state is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two.Lawrence, Eleanor (2005) ''Henderson's Dictionary of Biology''. Pearson, Prentice Hall. For example, having eye color is a ''character'' of an organism, while blue, brown and hazel versions of eye colour are ''traits''. The term ''trait'' is generally used in genetics, often to describe phenotypic expression of different combinations of alleles in different individual organisms within a single population, such as the famous purple vs. white flower coloration in Gregor Mendel's pea plants. By contrast, in systematics, the term is ''character state'' is employed to describe features that represent fixed diagnostic differences among taxa, such as the absence of tails in great apes, relative to other primate groups. Definition A phenotypic trait is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
P-value
In null-hypothesis significance testing, the ''p''-value is the probability of obtaining test results at least as extreme as the result actually observed, under the assumption that the null hypothesis is correct. A very small ''p''-value means that such an extreme observed outcome would be very unlikely under the null hypothesis. Reporting ''p''-values of statistical tests is common practice in academic publications of many quantitative fields. Since the precise meaning of ''p''-value is hard to grasp, misuse is widespread and has been a major topic in metascience. Basic concepts In statistics, every conjecture concerning the unknown probability distribution of a collection of random variables representing the observed data X in some study is called a ''statistical hypothesis''. If we state one hypothesis only and the aim of the statistical test is to see whether this hypothesis is tenable, but not to investigate other specific hypotheses, then such a test is called a null ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bonferroni Correction
In statistics, the Bonferroni correction is a method to counteract the multiple comparisons problem. Background The method is named for its use of the Bonferroni inequalities. An extension of the method to confidence intervals was proposed by Olive Jean Dunn. Statistical hypothesis testing is based on rejecting the null hypothesis if the likelihood of the observed data under the null hypotheses is low. If multiple hypotheses are tested, the probability of observing a rare event increases, and therefore, the likelihood of incorrectly rejecting a null hypothesis (i.e., making a Type I error) increases. The Bonferroni correction compensates for that increase by testing each individual hypothesis at a significance level of \alpha/m, where \alpha is the desired overall alpha level and m is the number of hypotheses. For example, if a trial is testing m = 20 hypotheses with a desired \alpha = 0.05, then the Bonferroni correction would test each individual hypothesis at \alpha = 0.05/20 = ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Null Hypothesis
In scientific research, the null hypothesis (often denoted ''H''0) is the claim that no difference or relationship exists between two sets of data or variables being analyzed. The null hypothesis is that any experimentally observed difference is due to chance alone, and an underlying causative relationship does not exist, hence the term "null". In addition to the null hypothesis, an alternative hypothesis is also developed, which claims that a relationship does exist between two variables. Basic definitions The ''null hypothesis'' and the ''alternative hypothesis'' are types of conjectures used in statistical tests, which are formal methods of reaching conclusions or making decisions on the basis of data. The hypotheses are conjectures about a statistical model of the population, which are based on a sample of the population. The tests are core elements of statistical inference, heavily used in the interpretation of scientific experimental data, to separate scientific claims fr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allele Frequency
Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. Specifically, it is the fraction of all chromosomes in the population that carry that allele over the total population or sample size. Microevolution is the change in allele frequencies that occurs over time within a population. Given the following: # A particular locus on a chromosome and a given allele at that locus # A population of ''N'' individuals with ploidy ''n'', i.e. an individual carries ''n'' copies of each chromosome in their somatic cells (e.g. two chromosomes in the cells of diploid species) # The allele exists in ''i'' chromosomes in the population then the allele frequency is the fraction of all the occurrences ''i'' of that allele and the total number of chromosome copies across the population, ''i''/(''nN''). The allele frequency is distinct from the genotype frequency, although they are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Statistical Genetics
Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical genetics generally involves developing theory or methodology to support research in one of three related areas: *population genetics - Study of evolutionary processes affecting genetic variation between organisms *genetic epidemiology - Studying effects of genes on diseases *quantitative genetics - Studying the effects of genes on 'normal' phenotypes Statistical geneticists tend to collaborate closely with geneticists, molecular biologists, clinicians and bioinformaticians. Statistical genetics is a type of computational biology Computational biology refers to the use of data analysis, mathematical modeling and computational simulations to understand biological systems and relationships. An intersection of computer science, biology, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
