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Profile Documents Logout
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ppt
ppt

... catapulted sequencing into realm of population genetics Human genome took 10 years to sequence originally, and hundreds of millions of dollars Now we can do it in a week for <$2,000 ...
Prezentacja programu PowerPoint
Prezentacja programu PowerPoint

... HW law is the beck bone of population genetic study. As it is defined as „In a large random mating population with no selection, mutation and migration, the gene and genotypic frequencies are constant from generation to generation”. Thus, A population with constant gene and genotypic frequencies is ...
t - nslc.wustl.edu
t - nslc.wustl.edu

... where P is the observed proportion of homologous nucleotide sites that differ by a transition, and Q is the observed proportion of homologous nucleotide sites that differ by a transversion. Note that if (no transition bias), then we expect P = Q/2, so  = P+Q = 3/ Q, or Q = 2/ . This yields t ...
here - 1000 Genomes
here - 1000 Genomes

... The tool predicts the consequence of this variation, the amino acid position and change (if the variation falls within a protein) and the SNP identifier of known SNPs that occur at this position. The output columns are: uploaded variation - as chromosome_start_alleles location - in standard coordina ...
CHAPTER 1: Introduction During the past century some major
CHAPTER 1: Introduction During the past century some major

... At the time, a new theory was developed to explain the patterns of molecular genetic variation within and among species. In contrast to the selectionist argument of the balance hypothesis, Kimura’s Neutral Theory of molecular evolution suggests that most polymorphisms observed at the molecular leve ...
Evidence from the gnarly New Zealand snails for and against the red
Evidence from the gnarly New Zealand snails for and against the red

... 12. What is run-away sexual selection? How does it generate linkage disequilibrium and genetic correlations? How would you test for the existence of genetic correlations generated by sexual selection? Do you think the selection experiments on stalk-eyed flies showed the expected correlated response ...
Lecture 2 - Pitt CPATH Project
Lecture 2 - Pitt CPATH Project

... DNA sequences at the same physical locus, which may or may not result in different phenotypic traits • Genotype: the genetic constitution of a cell, an organism, or an individual • Genotyping: the process of identifying what genotype a person has for any given locus (loci) ...
Phenotypic Variance
Phenotypic Variance

... Heritability does not indicate the degree to which a characteristic is genetically determined An individual does not have heritability There is no universal heritability for a characteristic Even when heritability is high, environmental factors may influence a characteristic Heritabilities indicate ...
Linkage and Linkage Disequilibrium
Linkage and Linkage Disequilibrium

... rapidly from a small group of ancestors. For example, the 5,000,000 Finns mostly descended from about 1000 people who lived about 2000 years ago. Such a population is prone to allelic disequilibrium. •Selection: When an individual’s genotype influences his/her reproductive fitness. For example, if t ...
Lecture 3
Lecture 3

... Exponential: if c is a normalize constant factor which allows the sum of all the probabilities being equal to 1, the probability of the individual ranked i is ...
Quantitative Traits Modes of Selection
Quantitative Traits Modes of Selection

... Combining heritability and strength of selection allows us to predict evolutionary change in response to selection. ...
Genetic Heterogeneity in Human Disease. McCellan and King. 2010
Genetic Heterogeneity in Human Disease. McCellan and King. 2010

... with recent technology could be tested directly. For each common disease, “risk variants” have been identified by comparing allele frequencies at hundreds of thousands of polymorphic sites (SNPs) in thousands of cases versus thousands of controls. To date, genome-wide association studies (GWAS) have ...
Population Phenotypes of Neuropsychiatric Copy Number Variants
Population Phenotypes of Neuropsychiatric Copy Number Variants

... hetero/homozygosity. Linkage disequilibrium pruning was used to select the most informative single nucleotide polymorphisms (SNPs) (R2<0.2) as a subsequent quality control step. SNPs were further filtered by genome inclusion (<2% missing) and Hardy Weinberg (inclusion P>1e-5). The three datasets wer ...
Detecting polygenic selection in marine populations by combining
Detecting polygenic selection in marine populations by combining

... however, quantitative genetics approaches offer experimental designs that are specifically designed to address these issues, such as common garden or reciprocal transplants setups (Lynch and Walsh 1998; Kawecki and Ebert 2004). The population genomic approach to local adaptation takes a different ro ...
CommercialOutbreds07..
CommercialOutbreds07..

... There is considerable variation in the size of colonies and the way animals are maintained (Table 1). Since unintended directional selection (for example culling small mice) and genetic drift alter genetic diversity, some breeders maintain heterozygosity by periodically crossing the stock to animals ...
Genetics of hypertension: The lack of evidence
Genetics of hypertension: The lack of evidence

... Thanks to the modern genotyping techniques such as chip based genotyping arrays [19, 20] hundreds of thousands to more than one million SNPs of variants have been genotyped relying either on the knowledge of linkage disequilibrium (LD) available on (http://hapmap.ncbi.nlm.nih.gov) and the 1000 Genom ...
CpG Mutation Rates in the Human Genome Are
CpG Mutation Rates in the Human Genome Are

... FIG. 1.—Characterization of the DNA sequences used in this study. Both length distributions shown here do not include a small number of much longer sequences (outside the region shown). (A) Length distribution of the 3,102,839 human SNP sequences that were retained for further analysis (see Methods) ...
Progress and promise in understanding the genetic
Progress and promise in understanding the genetic

... tissue/cell types that could mediate genetic susceptibility include liver/hepatocytes (e.g. through involvement in lipoprotein metabolism, source of inflammatory cytokines), cells of the immune system (lymphocytes, macrophages), platelets and cells of the vessel wall, including smooth muscle cells a ...
User guide
User guide

... Genome‐wide association studies (GWAS) have greatly expanded our knowledge of common diseases  by discovering many susceptibility common variants. Several gene‐set based methods that are  complementary to the typical single marker / gene analysis have recently been applied to GWAS  datasets to detec ...
agrico.rakesh_linkage
agrico.rakesh_linkage

... populations. The LOD score compares the likelihood of obtaining the test data if the two loci are indeed linked, to the likelihood of observing the same data purely by chance. Positive LOD scores favor the presence of linkage, whereas negative LOD scores indicate that linkage is less likely. Compute ...
Document
Document

... Why are the two phases in individual II-2 in the pedigree shown in Figure 10-14A equally likely?  First, unless the marker locus and NF1 are so close together as to produce linkage disequilibrium between alleles at these loci, we would expect them to be in linkage equilibrium.  Second, new mutati ...
Linkage Analysis
Linkage Analysis

... (eg Huntington) ...
The Austronesians: Historical and Comparative Perspectives
The Austronesians: Historical and Comparative Perspectives

... generations, by chance. If all offspring in a given mating are male, the maternal mitochondrial DNA lineage will terminate. The impact of genetic drift is directly related to population size — the smaller the population, the greater the fluctuations in gene frequencies from one generation to the nex ...
Use case flow for use case: 2
Use case flow for use case: 2

... Use case flow for use case: 2 Query: Of those associations between gene expressions and SNP’s that are on the same chromosome (cis), are they preferentially 3’ or 5’? Precondition: The biomedical researcher has identified a set of correlations between expression levels and SNP’s: (Gene expressed, SN ...
High Throughput Screening of Single Nucleotide Polymorphisms
High Throughput Screening of Single Nucleotide Polymorphisms

... strands of a PCR product made using labeled primers– without dideoxy sequencing. Unlike dideoxy sequencing, the sequencedetermining nucleotides for BESS (dUMP for T or a modified dGMP for G) are not terminators, permitting the full length of PCR product to be generated. However, BESS generates fragm ...
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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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