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Updated: May 29, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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在大规模的全基因组测序研究中进行多特征罕见变异分析的统计框架

Xihao Li1,2, Han Chen3, Margaret Sunitha Selvaraj4,5,6

  • 1Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Nature computational science
|February 7, 2025
PubMed
概括

我们开发了MultiSTAAR,这是一种用于分析多个特征的全基因组测序数据的新方法. 这种方法增强了与复杂的人类特征相关的罕见遗传变异的发现,改进了单一特征分析.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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相关概念视频

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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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