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Non-additive genome-wide association scan reveals a new gene
Non-additive genome-wide association scan reveals a new gene

... INGI-CARL, and INGI-FVG have been genotyped with the Illumina 370k high density SNP array. Genotype imputation on the INGI cohorts was conducted after standard QC using SHAPEIT223 for the phasing step and IMPUTE224 for the imputation using the1000 Genomes phase I v3 reference set25. ERF has been gen ...
2014-09 ICGI Wuhan Research Conference
2014-09 ICGI Wuhan Research Conference

... and expands CottonDB and CMD to include transcriptome, genome sequence and breeding data, and data mining tools ...
1/19/2016 1 The Effect of Artificial Selection on Phenotypic Plasticity
1/19/2016 1 The Effect of Artificial Selection on Phenotypic Plasticity

...  Days to Silk  Yield (bushels/acre) ...
A unit of measurement on genetic maps is:
A unit of measurement on genetic maps is:

... My objective would be to identify a genetic marker that predicts the adverse side-effect. In this case, I would conduct a case-control genome scan with the 100,000 human tagging SNPs from the HapMap project, where the cases are as large a sample as I can find (at least 200) of patients who took the ...
Lecture 1 Human Genetics
Lecture 1 Human Genetics

... 10-1000x indel rate (some 10-4!) mitochondrial DNA 10-100x nuclear point rate ...
ANSWERS TO REVIEW QUESTIONS
ANSWERS TO REVIEW QUESTIONS

... c. Inherited traits may stand out in an adoptee’s family where each member lives in the same environment, but the adopted individual has different genes. d. GWAS identify patterns of genetic variability that are seen much more often among people who share a specific trait or medical condition. ...
Shastry, B.S. 2002. SNP alleles in human disease and evolution
Shastry, B.S. 2002. SNP alleles in human disease and evolution

... hunt for the association between DNA variations and complex diseases (Helmuth 2001). This is because haplotype diversity, which is greater than SNP diversity, may be generated by new SNP alleles that can arise because of mutation at different loci, and hence can be studied by both linkage and associ ...
Link to Powerpoint
Link to Powerpoint

... in the parent (i.e., originating from which grandparent) is passed along to the offspring • Alleles physically adjacent on a chromosome are more likely to be passed on together than alleles far apart • Alleles very far apart or on different chromosomes are inherited randomly ...
ppt
ppt

...  Current cost with Illumina HiSeq 2000 is about $2000 for 10X depth ...
Interpreting the prevalence of regulatory Snps in cancers and protein coding SNPs among non-cancer diseases using GWAS Association Studies
Interpreting the prevalence of regulatory Snps in cancers and protein coding SNPs among non-cancer diseases using GWAS Association Studies

... cases and control samples in order to associate them with the complex disease have developed the hunt for genetic basis of these diseases. The success of GWAS can be seen from the fact that it identified novel common genetic risk factors involved with the significance of earlier recognized generic v ...
Online resources for genetic variation study-Part One
Online resources for genetic variation study-Part One

...  SNPs appear once per 0.1-1 kb interval or on average 1 per 300 bp. Considering the size of entire human genome (3.2 x109 bp), the total number of SNPs is well above 11 million. The high density and relatively easier assay make SNPs the ideal genomic markers.  In sillico estimation of potentially ...
Identifying Chromosomal Abnormalities Using Infinium
Identifying Chromosomal Abnormalities Using Infinium

... Platform comparison performed by independent cytogenetics lab – Human1M-Duo and Agilent 244A arrays – Looking for cytogenetic abnormalities with focus on copy-neutral events ...
High-throughput genotyping
High-throughput genotyping

... • Genetic marker • Polymorphisms that are highly variable between individuals: Microsatellites and single nucleotide polymorphisms (SNPs) • Marker may be inherited together with the disease predisposing gene because of linkage disequilibrium (LD) Finnish Genome Center ...
Determining mRNA with derived allele
Determining mRNA with derived allele

... common polymorphisms, but could not detect any LNPEP functional difference that associated with ERAP2 Haplotype A or B. Specifically, no LNPEP coding variant was found in high LD with ERAP2 diagnostic SNPs; further, we determined that the two known common LNPEP mRNA isoforms (GenBank Accessions U627 ...
Background Autism spectrum disorder (ASD) is a
Background Autism spectrum disorder (ASD) is a

... Autism spectrum disorder (ASD) is a neurodevelopmental disorder that appears early in life and is characterized by limited interest and lacking ability in social interactions, repetitive behavior and dysfunction in social communication. Motor and intellectual deficits, together with mood and sleep d ...
10. Wang T, Liang ZH, Sun SG, Cao XB, Peng H, Liu HJ, et al
10. Wang T, Liang ZH, Sun SG, Cao XB, Peng H, Liu HJ, et al

... use previously employed robust and resource-intensive approaches to systematic genome-wide association analysis.4,5,8 However, we must consider that high-powered large-scale studies may not be undertaken in the majority of laboratories due to low resources. Thus, genotyping methods different from th ...
Supporting Text S1
Supporting Text S1

... single breed, to attempt to map their known chromosomal locations. These were the recessive chestnut coat color locus on ECA3 due to a polymorphism in the MC1R gene [2] which abolishes eumelamin synthesis in body hair follicles; the recessive black coat color locus on ECA22 due to a polymorphism in ...
Clinical Next Generation Sequencing (From Bench to Clinitions)
Clinical Next Generation Sequencing (From Bench to Clinitions)

... With targeted sequencing, a subset of genes or regions of the genome are isolated and sequenced. Targeted approaches using next-generation sequencing (NGS) allow researchers to focus time, expenses, and data analysis on specific areas of interest. Such targeted analysis can include the exome (the pr ...
No Slide Title
No Slide Title

... Overview of Course Syllabus ...
Word - NIEHS SNPs Program - University of Washington
Word - NIEHS SNPs Program - University of Washington

... As a launching point, we will begin our search at the NIEHS SNPs resource. This can be accessed at http://egp.gs.washington.edu/ The NIEHS SNPs Program at the University of Washington is part of the EGP. The EGP is a multi-disciplinary effort focused on exploring the relationships between environmen ...
chakravartiLab
chakravartiLab

... Use chip data first in linkage study, then use same data with transmission-disequilibrium-test for association study within candidate regions. • Have found some relatively common varients that contribute to risk. • Colleagues at UCLA have found rarer, higher risk variants. ...
HIV Vaccine Database and Web Works
HIV Vaccine Database and Web Works

... Use chip data first in linkage study, then use same data with transmission-disequilibrium-test for association study within candidate regions. • Have found some relatively common varients that contribute to risk. • Colleagues at UCLA have found rarer, higher risk variants. ...
GHS-Express database http://genecanvas.ecgene.net/uploads/Fo
GHS-Express database http://genecanvas.ecgene.net/uploads/Fo

... expressions with a p-value < 10-5 are reported (n=225615) together with the position of the SNP and of the associated gene. “cistransDistance” is 109 when the SNP and gene are ...
J.J. Bryan, V.L. Vance, M. Bauchet, C.L. Mouritsen
J.J. Bryan, V.L. Vance, M. Bauchet, C.L. Mouritsen

... Karitiana, Maya, Pima, and Surui. Details on the collections see H. Cann et al. Science 296:261-262 (2002) A human genome diversity cell line panel, and its supplemental Data; Rosenberg et al. Science 298: 2381-2385 (2002); and Rosenberg et al. PLoS Genetics 1:660-671 (2005). ...
Aquaporin 2 gene variations, risk of venous
Aquaporin 2 gene variations, risk of venous

... and secretion of vasopressin by the hypothalamuspituitary axis,7 which leads to secretion of VWF. It has been shown in rodents that angiotensin II can also directly upregulate the expression of V2R itself.8 We hypothesized that functional variations in the AQP2 gene can influence the risk of venous ...
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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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