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“Cowboy Glossary” of Genetic Terms
“Cowboy Glossary” of Genetic Terms

... Low Density Genomic Profile – a DNA test that uses 30,000 SNP markers; these 30K markers are then imputed up to 50K for GE-EPDs High Density Genomic Profile – a DNA test that uses 150,000 SNP markers, providing more genomic information; GE-EPDs are created by extracting 50K of these markers Genetic ...
A Look at Personalized Medicine
A Look at Personalized Medicine

... DNA sequences. A plan to capture human diversity in 1000 genomes. Science 2008; 319(5863):395 ...
view
view

... of SNPs) within each of the case and control groups. Genetic scoring for a pair of subjects is measured by a “kernel” function, like recessive, dominant and linear dosage. - Then compares the average scores between cases and controls by use of a global statistic with one degree of freedom instead of ...
A Look at Personalized Medicine
A Look at Personalized Medicine

... DNA sequences. A plan to capture human diversity in 1000 genomes. Science 2008; 319(5863):395 ...
Prof. Kamakaka`s Lecture 14 Notes
Prof. Kamakaka`s Lecture 14 Notes

... Instead, they serve as biological markers for pinpointing a disease on the human genome map, because they are usually located near a gene found to be associated with a certain disease. Scientists have long known that diseases caused by single genes and inherited according to the laws of Mendel are a ...
Mutation or polymorphism?
Mutation or polymorphism?

... This implies there is a normal allele that is prevalent in the population and that the mutation changes this to a rare and abnormal variant. In contrast, a polymorphism is a DNA sequence variation that is common in the population. In this case no single allele is regarded as the standard sequence. I ...
Genetic Epidemiology of Airway Disease
Genetic Epidemiology of Airway Disease

... • What are genome-wide association studies? • What are the statistical requirements for a successful genome-wide association study? • Sufficient sample sizes ...
Document
Document

... At least 1 million markers for GWAS in Africans (1 SNP every 3kb) Statistical issues: multiple test adjustments require large data sets to identify variants with small effect ...
Honours Genetics Research Tutorial
Honours Genetics Research Tutorial

... • Also used a simple measure of genetic distance ...
Chapter
Chapter

... Email: [email protected], Tel.:+84-710 3832475, Fax: +84-7103 831270 Veterinary staff, People’s Committee of Phuoc Hao Commune, Chau Thanh district, Tra Vinh province Postal address: People’s Committee of Phuoc Hao Commune, Chau Thanh district, Tra Vinh province, Vietnam Email: [email protected], ...
No Slide Title
No Slide Title

... High level of population polymorphism ...
slides
slides

... Abundance:  high  frequency  on  the  genome   Posi@on:  throughout  the  genome     –  coding  region,  intron  region,  promoter  site   Ease  of  genotyping  (high-­‐throughput  genotyping)   Less  mutable  than  other  forms  of  polymorphi ...
Quantitative Genetics of Natural Variation: some questions
Quantitative Genetics of Natural Variation: some questions

... If LD is detectable, indicates that an allele is young. Expect magnitude of LD is proportional to the age of an allele. If LD is not detectable, indicates that an allele is old. Expect old and frequent alleles, or old and rare alleles, But do not expect young, high frequency alleles. Indicates allel ...
FR by Ovary Histology - the Gynecologic Cancer InterGroup
FR by Ovary Histology - the Gynecologic Cancer InterGroup

... Minor Allele Frequency Cases Control s rs11849538* 0.172 0.091 ...
Supplemental Figure and Methods
Supplemental Figure and Methods

... from analysis if they (a) failed a test for Hardy-Weinberg equilibrium (HWE) at a pvalue threshold of 1x10-6 using unrelated subjects, (b) had four or more duplicate errors or non-Mendelian inheritance (NMI) errors, or (c) had a sample success rate < 90%. Stage 2 data for two SNPs was included even ...
A method to detect single-nucleotide
A method to detect single-nucleotide

... © 2011 Song et al; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original wor ...
Project Summary The single nucleotide polymorphisms (SNPs) are
Project Summary The single nucleotide polymorphisms (SNPs) are

... Project  Summary   The  single  nucleotide  polymorphisms  (SNPs)  are  found  to  have  important  roles  in  the  pathogenesis   of   diseases,   gene-­‐   environment   interactions,   susceptibility   to   many   diseases,   and   drug-­‐protei ...
Van de Mark, Daniel: The Numerous Caveats of Designing, Implementing, and Interpreting Genome-Wide Association Studies
Van de Mark, Daniel: The Numerous Caveats of Designing, Implementing, and Interpreting Genome-Wide Association Studies

... In the traditional GWA study where single SNPs are linked to a disease, genotypes linked to diseases or traits are usually presented as odds ratios (the ratio of the probability of a disease occurring in the disease group to the probability of it occurring in the control group) or population attrib ...
Towards a structural basis of human non
Towards a structural basis of human non

... Owing to the application of high-throughput SNP detection techniques, the number of identified SNPs is growing rapidly, enabling detailed statistical studies2–5. These include studies of SNPs that affect the amino acid sequence of a gene product (non-synonymous SNPs); they complement the large body ...
(ii) Varshney
(ii) Varshney

... - Phenotyping of MAGIC and NAM populations (each population least in 3 environments) ...
Signatures of Selection in the Human Olfactory Receptor OR5I1 Gene
Signatures of Selection in the Human Olfactory Receptor OR5I1 Gene

... continental regions (fig. 2). Around half of the SNPs analyzed appeared to have derived frequencies equal or greater than 85% across all populations, whereas rs2457239 was found to be fixed. FST values between the 39 populations analyzed were rather low (fig. 1), with an average across SNPs of aroun ...
Midterm 1 Results…
Midterm 1 Results…

... Common theme: linking genotype & phenotype ...
Слайд 1 - SvitPPT
Слайд 1 - SvitPPT

... • Polymorphism: A genetic variation that is observed at a frequency of >1% in a population ...
A computational platform for whole genome association analysis
A computational platform for whole genome association analysis

... Canonical correlation analysis ...
Text S1.
Text S1.

... (AFs). These are defined by two categories: 1) the novel nsSNPs which are absent from dbSNP and 2) nsSNPs found in dbSNP but with unknown MAF. 19% of the novel nsSNPs and 17% of the dbSNP SNPs with unknown AF were predicted to affect function. These percentages are higher than what is observed for S ...
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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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