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Updated: Jun 11, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

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使用非负数最小方程对罕见变异负荷得分进行联合测试

Andrey Ziyatdinov1, Joelle Mbatchou1, Anthony Marcketta1

  • 1Regeneron Genetics Center, Tarrytown, NY, USA.

American journal of human genetics
|October 4, 2024
PubMed
概括

我们介绍了稀疏负载关联测试 (SBAT),这是一个新的方法,用于基因负载测试在外体范围的关联研究. 通过测试联合负担得分,SBAT改善了分析,在模拟和英国生物库数据中超过了现有的方法.

关键词:
协会研究研究协会研究.外基因组测序是指外基因组的测序.基因测试是基于基因的测试.

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