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Updated: May 21, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

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在孟德尔随机化研究中利用类群集来解决高比例的相关水平类

Bin Tang1,2, Nan Lin1,2, Junhao Liang1,2

  • 1Department of Genetics and Biomedical Informatics, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China.

Nature communications
|March 22, 2025
PubMed
概括

门德尔随机化 (MR) 可以产生错误的阳性结果由于相关的水平变性. 针对MR的新的Pleiotropic Clustering框架 (PCMR) 能够有效地检测出这种性,从而提高了遗传研究中的因果推理准确度.

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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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The chi-square test was developed by Pearson in 1990.
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