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Updated: Jul 11, 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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在大型全基因组测序研究中进行强大的多特征罕见变异分析的统计框架

Xihao Li1,2, Han Chen3,4, Margaret Sunitha Selvaraj5,6,7

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

bioRxiv : the preprint server for biology
|November 14, 2023
PubMed
概括

通过联合分析多个特征,MultiSTAAR增强了在大型全基因组测序研究中的罕见变异分析. 这种强大的新框架可以识别单一特征方法错过的遗传关联,从而提高我们对复杂的人类特征的理解.

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