This link has been bookmarked by 19 people . It was first bookmarked on 01 Aug 2010, by kevinjymao.
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29 Jun 14
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entire genome
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Around the year 2000, prior to the introduction of GWA studies, the primary method of investigation was through inheritance studies of genetic linkage in families. This approach had proven highly useful towards single gene disorders
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allele frequency is significantly altered between the case and the control group
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a P-value for the significance of the odds ratio is typically calculated using a simple chi-squared test
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Finding odds ratios that are significantly different from 1 is the objective of the GWA study because this shows that a SNP is associated with disease
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One has been towards larger and larger sample sizes
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more narrowly defined phenotypes
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22 Mar 13
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is an examination of many common genetic variants in different individuals to see if any variant is associated with a trait
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ople with the disease (cases) and similar people without (controls).
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sing SNP arrays
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frequent
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e genetic association study
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e allele of a genetic variant is found more often than expected in individuals with the phenotype of interes
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case-control setup which compares two large groups of individual
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he exact number of SNPs depends on the genotyping technology, but are typically one million or more.
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he fundamental unit for reporting effect sizes is the odds ratio.
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03 Sep 12
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small variations in the individual nucleotides of the genomes (SNPs) as well as many larger variations; deletions, insertions and copy number variations
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rior to the introduction of GWA studies, the primary method of investigation was through inheritance studies of genetic linkage in families.
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common and complex diseases the results of genetic linkage studies proved hard to reproduce
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found more often than expected in individuals with the phenotype of interest
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Early calculations on statistical power indicated that this approach could be better than linkage studies at detecting weak genetic effects.[
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allele frequency
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chi-squared test
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several variables into account that could potentially confound the results. Sex and age
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studies must take account of the geographical and ethnical background of participants, controlling for what is called population stratification.
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identifies risk-SNPs, but not risk-genes
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04 May 12
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In genetic epidemiology, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an examination of many common genetic variants in different individuals to see if any variant is associated with a trait. GWAS typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major diseases.
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28 Apr 11
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They are useful in finding the molecular pathways of disease, but usually not useful in finding genes that predict risks of disease
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If genetic variations are more frequent in people with the disease, the variations are said to be "associated" with the disease
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GWASs are generally non-hypothesis-driven.
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number of copies of large and small segments of the genome (copy number variation)
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Disappointingly, most of the SNP variations found by GWAS are associated with only a small increased risk of the disease, and have only a small predictive value.
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a few variants have a large effect, but most have small effects.
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n unprecedented potential for false-positive results".
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13 Mar 11
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much the genes vary from individual to individual
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associations of particular genes with diseases
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hypothesis-driven and non-hypothesis driven methods
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01 Aug 10
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is an examination of all or most of the genes (the genome) of different individuals of a particular species to see how much the genes vary from individual to individual.
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