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Genetic association testing using the GENESIS R/Bioconductor package.
Bioinformatics ( IF 4.4 ) Pub Date : 2019-12-15 , DOI: 10.1093/bioinformatics/btz567
Stephanie M Gogarten 1 , Tamar Sofer 2, 3 , Han Chen 4, 5 , Chaoyu Yu 1 , Jennifer A Brody 6 , Timothy A Thornton 1 , Kenneth M Rice 1 , Matthew P Conomos 1
Affiliation  

SUMMARY 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. AVAILABILITY AND IMPLEMENTATION https://bioconductor.org/packages/GENESIS; vignettes included. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.

中文翻译:

使用GENESIS R / Bioconductor套件进行遗传关联测试。

发明内容基因组数据存储(GDS)格式可有效存储和检索通过微阵列和测序测得的基因型。我们开发了GENESIS,以使用GDS格式存储的基因型数据执行各种单变量和聚集变量关联测试。GENESIS实现了高度灵活的混合模型,允许使用不同的链接功能,多个方差成分和表型异方差。GENESIS与其他R / Bioconductor软件包紧密集成,可在R环境中完全构建完整的基因组分析工作流程。可用性和实现https://bioconductor.org/packages/GENESIS; 包括小插图。补充信息补充数据可从Bioinformatics在线获得。
更新日期:2020-01-13
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