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Association Studies of Vascular Phenotypes
Association Studies of Vascular Phenotypes

... the distance between the new mutation and the other marker. So markers that are closer to the new mutation are likely to be in stronger disequilibrium with it. Generations pass, more recombinations occur, and disequilibrium between the mutation and surrounding markers continually decreases. Eventual ...
Development of a New Method to Prioritise Gene Analysis in
Development of a New Method to Prioritise Gene Analysis in

... • More genes tend to be excluded when more distantly related individuals such as first cousins or aunt/niece, nephew pairs are considered, rather than more closely related sibs • GLEAM can be used to determine the order in which genes are sequenced in heterogeneous disorders ...
Association of KCNQ1, KCNE1, KCNH2 and SCN5A Polymorphisms
Association of KCNQ1, KCNE1, KCNH2 and SCN5A Polymorphisms

... subjects with the shortest QTc. In the initial study, Aydin et al (2005) reported an association between this polymorphism and QTc length in a normal German population of twins and showed that subjects with SCN5A IVS24+116 A/A genotype had longer QTc than subjects with SCN5A IVS24+116 G/G15. Additio ...
Genome-wide association analysis with correlated traits in Duroc pigs
Genome-wide association analysis with correlated traits in Duroc pigs

... lean meat are desirable in terms of reducing costs and increasing products (McGlone et al. (2003)). Therefore, simultaneous improvement of these production traits with economic interests becomes a major goal for swine breeders. Genetic improvements for feed efficiency, growth as well as backfat thic ...
Polymorphisms in the CRP and C1Q genes and - dr
Polymorphisms in the CRP and C1Q genes and - dr

... Organization (WHO, 2008) this disease affects about 7 per thousand of the adult population, mostly in the age group 15-35 years (first episodes) ...
A case-control study among Chinese Han population
A case-control study among Chinese Han population

... Consistent with previous reports, we did not find any SNP in ...
Track the full extent of structural variation in a genome
Track the full extent of structural variation in a genome

... 2. Wenger, A. et al. (Oct, 2016) Effect of coverage depth and haplotype phasing on structural variant detection with PacBio long reads. Poster #3206 presented at 65th Annual Meeting of The American Society of Human Genetics. Vancouver, BC. 3. Chaisson, M. J. P. et al. (2014) Resolving the complexi ...
Lab Sporks and Beans Natural Selection AP Bio 2010
Lab Sporks and Beans Natural Selection AP Bio 2010

... k. Survival is all that is needed to affect natural selection. l. Survival is important, but reproductive success is also needed for natural selection. ...
Table 1
Table 1

... Figure 11 – Breakdown of call variance between TaqMan and Infinium by kit and variance type ...
Kernel Approaches for Nonlinear Genetic Association Regression
Kernel Approaches for Nonlinear Genetic Association Regression

... pathway’s influence. The intercept is assumed to be included in xi . For more details see Liu et al (2008). Different kernels have been proposed that convert the genomic information of two individuals into a quantitative value reflecting their genetic similarity. This package includes the linear ker ...
An Overview of MaizeGDB
An Overview of MaizeGDB

... – Sequencing of ~16,600 BACs at 6X coverage was based on a well developed integrated genetic and physical map ...
Document
Document

... Polymorphism is simply a snapshot of a continuous process of mutational input and subsequent random extinction or fixation of alleles. ...
Phasing Analysis Service for Whole Human Genome Sequencing
Phasing Analysis Service for Whole Human Genome Sequencing

... Enabling Comprehensive Analysis of Complex Traits Because genome phasing technology provides haplotype information about each individual genome, it enables allele-specific and variant linkage analysis (Figure 3). This knowledge can inform studies of complex trait susceptibility, as allelic interacti ...
An introduction to genetics and molecular biology
An introduction to genetics and molecular biology

... So far, we’ve focused on related subjects (families), but in fact all humans are related at some level. This fact manifests itself in the genome via a phenomenon called linkage disequilibrium (LD). Linkage disequilibrium exists when 2 (or more) alleles tend to be present in the same haplotype more t ...
Midterm 2 - 1996
Midterm 2 - 1996

... 10. (14 points) Provide brief answers to the following questions regarding uses of measured genotype approaches to study the genetic basis of quantitative phenotypes. a. (4 points) What information about the history of a human population is important for choosing that population to conduct a genome ...
A Hidden Markov Model Combining Linkage and Linkage
A Hidden Markov Model Combining Linkage and Linkage

... shown to correspond to clusters of genealogically related chromosomes. We show that these cluster states can directly be used to fine map QTL. The method is computationally effective at handling large data sets based on high-density SNP panels. ...
Linear Regression (1/1/17)
Linear Regression (1/1/17)

... where 1(gi , XX) is the indicator function that takes value 1 when the genotype for individual i is XX, and zero otherwise. Linkage disequilibrium (LD) is a way to consider the relationship between linked (or co-evolving) SNPs. LD can be best explained using an example (Figure 7). Your grandparents ...
What is SNP?
What is SNP?

... application of genome analysis technologies, including large-scale sequencing ...
Genome Assembly and Annotation
Genome Assembly and Annotation

... • SNPs • MUCH more not covered in this lecture – Predictions using bioinformatics – Alignment of other types of data ...
Three Allele Combinations Associated with
Three Allele Combinations Associated with

... serological specificity DR15(2) (pcorr<0.0001, OR = 3.1, CI is 2.1-4.6) (Figure 2A), and with a carriership of a TNFa*9 microsatellite allele (pcorr<0.01, OR = 7.9, CI is 1.8-35.0) (Figure 2B). The allelic distribution of the TNFb microsatellite, which is adjacent to TNFa, did not differ significant ...
ADDRESSING THE BITTER TRAIT IN CHICORY “PUNTARELLE
ADDRESSING THE BITTER TRAIT IN CHICORY “PUNTARELLE

... vegetable; Molfettese and Galatina are Apulian landraces consumed for their tender stems (turions or "puntarelle"). Bitterness is an important organoleptic trait, which directs both consumer and breeding choices and is linked to the content of sesquiterpene lactones (STLs). Major STLs (lactucin, 8-d ...
The Genetics of Pain
The Genetics of Pain

... • Merits of Family-based and case-control association methods (good in reducing stratification problems but comes at a cost of reduced power). • Use of historical controls (storage and data acquisition problems) ...
HISAT-genotype: fast software for analyzing human genomes
HISAT-genotype: fast software for analyzing human genomes

... information about human genetic variation, including >110 million SNPs (in dbSNP) and >10 million structural variants (in dbVar). Although these variants represent a valuable resource for genetic analysis, computational tools do not adequately incorporate the variants into genetic analysis. For inst ...
What Can You Do With qPCR?
What Can You Do With qPCR?

... SNP variation is detected by binding sequence-specific anchor and and sensor probes next to each other and a signal is generated by FRET. A single base change will lead to an earlier melting temperature of the probe-target complex. The melting temperatures (Tms) will be different for amplicons with ...
Text S1.
Text S1.

... Populations of organisms that commonly reproduce asexually will tend to have a high frequency of clones. Therefore statistical calculations based on allele frequencies can be negatively biased [47]. For example, linkage analysis on a population that is highly clonal may indicate that loci are in lin ...
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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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