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Updated: Mar 22, 2026

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教程:针对人口规模关联分析的全外体和全基因组测序数据的质量过指南

Julia M Sealock1,2, Franjo Ivankovic3,4, Calwing Liao3,4

  • 1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. jsealock@broadinstitute.org.

Nature protocols
|March 29, 2025
PubMed
概括

基因测序数据的质量控制对于准确的人口研究至关重要. 本教程提供了选变体和基因型的指导方针,以确保可靠的遗传关联分析.

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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.
GWAS does not require the identification of the target gene involved in...
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