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The BCM Microarray Core Facility
The BCM Microarray Core Facility

... gel electrophoresis or the Agilent Bioanalyzer. Internal sample processing QC steps include testing library size and yield using either the Agilent Bioanalyzer or the Bio-Rad Experion instrument. Library size must be checked before proceeding to the Cluster Station to ensure appropriate clusters wil ...
A missense mutation in growth differentiation factor 9 (GDF9) is
A missense mutation in growth differentiation factor 9 (GDF9) is

... HE866499) in 7 rams with high EBVs for litter size, and 6 rams with low EBVs, animals were chosen to be not closely related. This revealed one polymorphism where the alleles appeared to correlate with the litter size phenotype. This was a single nucleotide polymorphism (c.1111G>A) responsible for a ...
deschamp_2009_sequencing
deschamp_2009_sequencing

... • Small genomes that are not too complex (repeats, duplications...) • The longer the reads, the better – Targeted Resequencing • Complex genomes (crops) – Reduced representation libraries (methyl-sensitive enzymes) ...
Sex-specific Trans-regulatory Variation on the Drosophila melanogaster X Chromosome
Sex-specific Trans-regulatory Variation on the Drosophila melanogaster X Chromosome

... genes with expression that shows a high degree of sexually discordant genetic variation (SDV genes, n = 121), and another set of genes that shows a high degree of sexually concordant genetic variation (SCV genes, n = 151) (S1 Fig.; S1 Table). SDV and SCV genes were evenly distributed, with respect t ...
Lecture 15 Quantitative Genetics II
Lecture 15 Quantitative Genetics II

...  When there is genetic variation for a character there will be a resemblance between relatives.  Relatives will have more similar trait values to each other than to unrelated individuals. ...
1 Today: Genetic and Physical Mapping Sept 2. Structure and
1 Today: Genetic and Physical Mapping Sept 2. Structure and

... Enter Punnett, Bateson and Saunders (1905), who examined two other traits (flower color & pollen shape) in pea plants. ...
Re-sequencing and genotyping the VRN-H, PPD-H, FR
Re-sequencing and genotyping the VRN-H, PPD-H, FR

... (Additional File 2) and found 37 genotypes with the dominant and 65 with the recessive allele (Additional File 1). While the dominant allele was conserved and had just one haplotype, six promoter haplotypes led to the recessive allele (Additional File 4). Eighty-one accessions, including one with wi ...
BMC Genomics 10
BMC Genomics 10

... SNPs was unbiased as they were found randomly in the amplicons containing the EST sequences, which were distributed across the 22 human autosomes. Almost all SNPs showed heterozygosity in the sires except 14 SNPs that were included because of interest to other projects. As the SNPs were selected on ...
Frequency-Dependent Selection on a Polygenic Trait
Frequency-Dependent Selection on a Polygenic Trait

... selection, the fitness differences between phenotypes maintained in the population being much larger than under pure stabilizing selection. ...
Human Genetic Revolution
Human Genetic Revolution

... • Dmax is determined by setting one of the haplotypes involving the least common allele at a frequency of zero – Dmax = 0.12, if frequency of AM were zero – Absolute Dmax is 0.25 for any two-locus system (frequency of each of four alleles were 0.25) • Effect on linkage analysis – If no assumptions a ...
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome.

... Many of the birth defects associated with trisomy exhibit both variable expressivity and incomplete penetrance. This variability suggests that it is allelic variation and not simply the presence of an additional chromosome that leads to the development of certain trisomy-associated birth defects. Wi ...
Lecture PPT - Carol Lee Lab
Lecture PPT - Carol Lee Lab

... a given locus (increases genotypic variation) ...
Full Text
Full Text

... are not detected in GWAS. (Recall that it is common single base variants that GWAS are designed to detect – any single base variant that has a population frequency of, for example, only 1 in 1000 is undetectable by GWAS). However, we know that such rare variants can have an impact on biological func ...
View PDF
View PDF

... downstream of the BMP-2 gene and spans 18 kb. Previous studies have shown that these three polymorphisms on chromosome 20p12 were associated with the risk of osteoporosis and osteoporotic fracture [19, 20]. The rs996544 (C/T) “TT” genotype and rs965291 (G/A) “AA” genotype were associated with higher ...
A sample article title
A sample article title

... metalloproteinases (MMPs) disrupt extracellular matrix, are present in atherosclerotic plaques, and appear to be more active in unstable lesions. Therefore, MMPs may play an important role in plaque rupture and the posterior remodeling of the vessel wall [2]. In particular, MMP-1 (collagenase-1) has ...
1. Introduction
1. Introduction

... has simply three integration Modules: Integrate Genechips according to genomes and chromosomes; Integrate Genechips according to specific genes and SNPs; Integrate HapMap genotypes. After integration, you can export the integrated data into various formats for statistical genetic analyses. Some basi ...
AllBio_DJK
AllBio_DJK

... Complex Traits ...
Genetic Monitoring of Rodents
Genetic Monitoring of Rodents

... and are maintained by mating non-related animals to retain maximum heterozygosity. Therefore, the goal with genetic monitoring of outbred stocks is to preserve the heterogeneity and prevent formation of sublines. Strains are considered inbred if they have been maintained by 20 or more sibling mating ...
Forensic ABO blood grouping by 4 SNPs analyses using an ABI
Forensic ABO blood grouping by 4 SNPs analyses using an ABI

... performed for 60 min at 60 8C. PCR products were analyzed by ABI PrismR 3100 Genetic Analyzer and Gene Mapper Software (Applied Biosystems). 3. Results and discussion Fig. 1 shows an example of fragment chart patterns obtained from a DNA sample belonging to B phenotype. ABO grouping was performed ba ...
Review on positive selection
Review on positive selection

... Statistical tests commonly used to detect this signature include the Ka/Ks test, ulation frequency, variants at nearby locations fraction of rare alleles. (iii) High-frequency derived alleles (age relative rate tests, and the McDonald-Kreitman on the same chromosome (linked variants) test (20–22). S ...
A2.1.4.GeneticTesting
A2.1.4.GeneticTesting

... Aaron and Gina Smith decide to have genetic testing to determine if they are carriers for cystic fibrosis. They both feel this is information they need to know before they make decisions about having children. Results reveal that neither Gina nor Aaron is a carrier for the disease. Relieved to know ...
SERIES ‘‘GENETICS OF ASTHMA AND COPD IN THE POSTGENOME ERA’’
SERIES ‘‘GENETICS OF ASTHMA AND COPD IN THE POSTGENOME ERA’’

... and allergies have been identified, both through searches using anonymous markers in the whole genome [1] and by direct studies of association between single nucleotide polymorphisms (SNPs) and allergy, asthma and related traits [2]. The present author’s research group has had an active participatio ...
Chapter 8
Chapter 8

... The frequency of any chromosome haplotypes can be calculated by multiplying the frequencies of the alleles which compose that haplotype The quantity D, (coefficient of disequilibrium)=0 D= gABgab - gAbgaB ...
Large Scale SNP Scanning on Human Chromosome Y and DNA
Large Scale SNP Scanning on Human Chromosome Y and DNA

... Single-strand conformation polymorphic analysis (2) is one of the most widely used gelbased methods for mutation detection. Oligonucleotide Ligation Assay (OLA) and mini sequencing (3) are also gel-based genotyping. Gel-based genotyping methods are still widely used in many labs for a small number o ...
Query Results
Query Results

... Step 4: The user can choose to map the experimental tags against a subset of genomic tags upon a large amount of different features. For details see the help links or: Malig, R., Varela, C., Agosin, E. and Melo, F. (2006) Accurate and unambiguous tag-to-gene mapping in SAGE by a hierarchical gene a ...
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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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