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Updated: Jun 5, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
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Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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对全基因组关联研究的基于人口意识的突变的显著性值

Maura John1,2, Arthur Korte3, Marco Todesco4,5,6

  • 1Technical University of Munich, TUM Campus Straubing for Biotechnology and Sustainability, Bioinformatics, 94315 Straubing, Germany.

Bioinformatics advances
|December 16, 2024
PubMed
概括

permGWAS2通过在 permutation 测试和优化计算过程中保持种群结构来改进全基因组关联研究 (GWAS). 这种方法减少了错误的发现,并在复杂的种群中确定了新的特征关联.

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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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The Wald-Wolfowitz runs test, commonly referred to as the runs test, is a nonparametric test used to assess the randomness of ordered data. The test evaluates the number of runs, which are consecutive sequences of similar elements within the data. If the number of runs is significantly higher or lower than expected, the data is considered non-random, indicating a detectable pattern or structure.
For binary data, runs are identified using symbols such as + and −, or equivalently, 1s and...
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