Genetic association testing using the GENESIS R/Bioconductor package

Genetic association testing using the GENESIS R/Bioconductor package
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DOI:
10.1093/bioinformatics/btz567
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发表时间:
2019-12-15
期刊:
影响因子:
5.8
通讯作者:
Conomos, Matthew P.
Conomos, Matthew P.
中科院分区:
生物学3区
文献类型:
--
作者:
Gogarten, Stephanie M.;Sofer, Tamar;Conomos, Matthew P.

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基因组数据存储(GDS)格式提供了通过微阵列和测序测量的基因型的有效存储和检索。我们开发了GENESIS,使用以GDS格式存储的基因型数据进行各种单一和聚合变体关联测试。GENESIS实现了高度灵活的混合模型,允许不同的链接函数,多个方差分量和表型异方差性。GENESIS与其他R/Bioconductor软件包紧密集成,完全在R环境中构建完整的基因组分析工作流程。
The Genomic Data Storage (GDS) format provides efficient storage and retrieval of genotypes measured by microarrays and sequencing. We developed GENESIS to perform various single- and aggregate-variant association tests using genotype data stored in GDS format. GENESIS implements highly flexible mixed models, allowing for different link functions, multiple variance components and phenotypic heteroskedasticity. GENESIS integrates cohesively with other R/Bioconductor packages to build a complete genomic analysis workflow entirely within the R environment.