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Modeling Linkage Disequilibrium and Identifying Recombination
Modeling Linkage Disequilibrium and Identifying Recombination

... INKAGE disequilibrium (LD) is the nonindependence, at a population level, of the alleles carried at different positions in the genome. The patterns of LD observed in natural populations are the result of a complex interplay between genetic factors and the population’s demographic history. In particu ...
Natural selection
Natural selection

... What is local adaptation? Evolution, through divergent natural selection, of traits that have high fitness in the environmental conditions specific to a population. e.g. populations of sunflowers around the Great Salt Lake are highly salt tolerant there, but not elsewhere. These adaptations are loca ...
Adaptation and speciation: what can Fst tell us?
Adaptation and speciation: what can Fst tell us?

... Examples include the study of local crypsis in response to bird predation in the snail Cepaea nemoralis [9] and the peppered moth Biston betularia [10]. The genetics of adaptation was largely eclipsed during the 1980s and 1990s by an interest in the possibility of recovering the historical demograph ...
Efficient Family Based Association Tests
Efficient Family Based Association Tests

... can often be imputed with very high accuracy and the imputed genotypes provide substantial gains in power15. However, even without flanking marker data, genotypes of relatives can be estimated and used to increase the power of genetic association studies17. Unfortunately, although it is clear that i ...
Genetic Diversity in an Andean Population from Peru and Regional
Genetic Diversity in an Andean Population from Peru and Regional

... presence of the restriction sites DdeI 10394 and AluI at 10397, and the absence or the presence, respectively, of HaeIII at 16517 [13, 14]. However, there is still discordance concerning the acceptance and interpretation of these haplotype variations [15–18]. Reanalysis of sequence and restriction f ...
genetic diversity and diversity of environment: mathematical aspects
genetic diversity and diversity of environment: mathematical aspects

... gene frequency q becomes concentrated very close to zero and one. This becomes more intuitive if one looks at z = log [q(l - q)]. Then z tends to -X or +00, as q tends to 0 or 1, and quasifixation is simply escape to infinity. The stochastic process for z is essentially a random walk in the discrete ...
Whole genome analyses using PopGenome and VCF files
Whole genome analyses using PopGenome and VCF files

... This module provides a wide range of FST as well as diversity measurenments. There exists two main classes. First, calculations which are either based on haplotypes mode=ḧaplotype¨ or second, the sequence based methods focussing on nucleotides mode="nucleotide". Note, be careful with haplotype base ...
Lessons in rheumatology from extreme phenotypes and subtle
Lessons in rheumatology from extreme phenotypes and subtle

... Many are in the same pathways Most genetic effects are small ...
CYP2B6 NESTED PCR: A GOOD APPROACH FOR PATIENTS ON METHADONE Original Article
CYP2B6 NESTED PCR: A GOOD APPROACH FOR PATIENTS ON METHADONE Original Article

... regions are ideal candidates to determine differential drug responses [18]. A number of important SNPs have also been identified within critical gene promoters, which are noncoding regions [19]. The differential drug metabolism caused by genetic variation for the CYP enzymes and in the μ opioid-rece ...
MONSTER Documentation
MONSTER Documentation

... variants may be included in the joint test, and the variants may come from, e.g., sequence or genotype data. In particular, MONSTER is suitable for testing for association between a trait and a set of rare variants. MONSTER performs a rapid and robust test against the null hypothesis that none of th ...
Population Before Selection
Population Before Selection

... For quantitative or continuous-valued traits, like skin color, variation among individuals within a population is caused by: 1. genetic differences at multiple loci 2. environmental differences experienced since fertilization of egg (or even before) Phenotypic variance of a population is calculated ...
View poster
View poster

... genome sequencing (WGS) or targeted enrichment using exome or gene panels. Copy number variation (CNV) of genomic segments is a large category of structural variation and has been implicated in many Mendelian diseases and complex traits. The impact of CNVs on gene expression is not limited to only t ...
Block Linkage Learning Genetic Algorithm in the Design of Ternary
Block Linkage Learning Genetic Algorithm in the Design of Ternary

... facilitates the process of combining low order schemata to higher order schemata of increased fitness. This provides a powerful algorithm for getting better solution in comparison with LLGA and its contemporary algorithms. This algorithm suits well in finding the discrete impulse response (sample va ...
Detecting the form of selection from DNA sequence data
Detecting the form of selection from DNA sequence data

... site depends on the frequency of each allele – heterozygosity is low if only one allele is common and is high when more than one allele is common. However, observing a significantly low level of heterozygosity for the number of polymorphisms is consistent with several possible processes, including h ...
Implication of Genetic Polymorphisms in CYP2C9 and CYP2C19 on
Implication of Genetic Polymorphisms in CYP2C9 and CYP2C19 on

... CEU (CEPH (Utah residents with ancestry from northern and western Europe)). ...
2002-11-14: Quantitative Traits IV
2002-11-14: Quantitative Traits IV

... to be associated on some chromosomes, and vice versa for those genes with negative effects, then the genetic variation will be increased over expectation when assuming linkage equilibrium.  One could also get a decrease in genetic variance below expectation.  There are equations for genetic varian ...
Genetic Drift and Polygenic Inheritance
Genetic Drift and Polygenic Inheritance

... its implications for the variability in metric traits among human populations has been a continuing problem. Most of the concepts of population genetics pertain to traits controlled by a single locus with a limited number of alleles, while most anthropometric traits are influenced by several loci an ...
Genetic selection and variation
Genetic selection and variation

... Variegation is a term that describes a leaf or flower that has two or more colors in a distinct alternating pattern. In some cases, variegation is caused by a mutation in the meristem that results in a chimera. Other sources of variegation include: Pattern variegation Transposons ...
UvA-DARE (Digital Academic Repository)
UvA-DARE (Digital Academic Repository)

... highly associated with sudden cardiac death. Until recently it was impossible to identify presymptomatic family members at risk for fatal events. We uncovered several genealogically linked families affected by numerous sudden cardiac deaths over the past centuries, attributed to familial idiopathic ...
Linkage Mapping and Molecular Diversity at the Flower Sex Locus
Linkage Mapping and Molecular Diversity at the Flower Sex Locus

... and resources in growing these plants in the field. However, although common microsatellite (SSR) loci relatively close to the sex locus have been reported, the general usefulness of these markers has not been tested across different germplasms. Recently, a molecular marker has been developed that i ...
ppt_I
ppt_I

... Databases ...
Maternal and paternal genomes contribute equally to the
Maternal and paternal genomes contribute equally to the

... form of imprinting in the Arabidopsis embryo. Genome-wide approaches similar to ours but looking much later after fertilization greatly expanded the list of genes with parent-of-origin-specific expression in the endosperm but did not identify such genes in embryos23,24. Thus, the imprinting-like phe ...
Chromosomal Microarray (CGH+SNP)
Chromosomal Microarray (CGH+SNP)

... There are two reasons for this: 1) UPD may be of the heterodisomy type, which is not detected by the array; and 2) for some of the disorders, mechanisms other than UPD can cause the disorder.  Failure to detect ROH does not exclude the clinical diagnosis of a recessive disorder.  Failure to dete ...
Chapter 13
Chapter 13

... 1. Natural selection. If selection favors individuals with particular combinations of alleles, then it produces linkage disequilibrium. If two or more gene combinations are much fitter than recombinant genotypes linkage disequilibrium will be favored. 2. Non-random mating. 3. When a new mutation ari ...
Revealing the genetic roots of obesity and type 2 diabetes
Revealing the genetic roots of obesity and type 2 diabetes

... Until recently, the progress in searching for genetic variants that predispose to type 2 diabetes was rather slow. Only the P12A variant of PPARG and the E23K variant in the KCNJ11 gene had been associated – and confirmed – with this disease in various large-scale studies performed in different popu ...
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Tag SNP



A tag SNP is a representative single nucleotide polymorphism (SNP) in a region of the genome with high linkage disequilibrium that represents a group of SNPs called a haplotype. It is possible to identify genetic variation and association to phenotypes without genotyping every SNP in a chromosomal region. This reduces the expense and time of mapping genome areas associated with disease, since it eliminates the need to study every individual SNP. Tag SNPs are useful in whole-genome SNP association studies in which hundreds of thousands of SNPs across the entire genome are genotyped.
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