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Alternative Applications of Genotyping Array Data Using Multivariant Methods.
Trends in Genetics ( IF 13.6 ) Pub Date : 2020-08-06 , DOI: 10.1016/j.tig.2020.07.006
David C Samuels 1 , Jennifer E Below 2 , Scott Ness 3 , Hui Yu 3 , Shuguang Leng 3 , Yan Guo 3
Affiliation  

One of the forerunners that pioneered the revolution of high-throughput genomic technologies is the genotyping microarray technology, which can genotype millions of single-nucleotide variants simultaneously. Owing to apparent benefits, such as high speed, low cost, and high throughput, the genotyping array has gained lasting applications in genome-wide association studies (GWAS) and thus accumulated an enormous amount of data. Empowered by continuous manufactural upgrades and analytical innovation, unconventional applications of genotyping array data have emerged to address more diverse genetic problems, holding promise of boosting genetic research into human diseases through the re-mining of the rich accumulated data. Here, we review several unconventional genotyping array analysis techniques that have been built on the idea of large-scale multivariant analysis and provide empirical application examples. These unconventional outcomes of genotyping arrays include polygenic score, runs of homozygosity (ROH)/heterozygosity ratio, distant pedigree computation, and mitochondrial DNA (mtDNA) copy number inference.



中文翻译:


使用多变量方法对阵列数据进行基因分型的替代应用。



基因分型微阵列技术是高通量基因组技术革命的先驱之一,它可以同时对数百万个单核苷酸变异进行基因分型。由于具有高速、低成本、高通量等明显优势,基因分型芯片在全基因组关联研究(GWAS)中获得了持久的应用,积累了大量的数据。在不断的制造升级和分析创新的推动下,基因分型芯片数据的非常规应用已经出现,可以解决更加多样化的遗传问题,有望通过重新挖掘丰富的积累数据来促进人类疾病的基因研究。在这里,我们回顾了几种基于大规模多变量分析思想的非常规基因分型芯片分析技术,并提供了实证应用示例。基因分型芯片的这些非常规结果包括多基因评分、纯合性 (ROH)/杂合性比率、远缘谱系计算和线粒体 DNA (mtDNA) 拷贝数推断。

更新日期:2020-10-13
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