Department of Biostatistics and Bioinformatics, Emory University, Atlanta, GA, USA.
Data and Statistical Sciences, AbbVie, North Chicago, IL, USA.
Sci Rep. 2017 Apr 21;7:46398. doi: 10.1038/srep46398.
A primary goal of The Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) is to develop an 'African Diaspora Power Chip' (ADPC), a genotyping array consisting of tagging SNPs, useful in comprehensively identifying African specific genetic variation. This array is designed based on the novel variation identified in 642 CAAPA samples of African ancestry with high coverage whole genome sequence data (~30× depth). This novel variation extends the pattern of variation catalogued in the 1000 Genomes and Exome Sequencing Projects to a spectrum of populations representing the wide range of West African genomic diversity. These individuals from CAAPA also comprise a large swath of the African Diaspora population and incorporate historical genetic diversity covering nearly the entire Atlantic coast of the Americas. Here we show the results of designing and producing such a microchip array. This novel array covers African specific variation far better than other commercially available arrays, and will enable better GWAS analyses for researchers with individuals of African descent in their study populations. A recent study cataloging variation in continental African populations suggests this type of African-specific genotyping array is both necessary and valuable for facilitating large-scale GWAS in populations of African ancestry.
非裔美洲人哮喘联盟(CAAPA)的主要目标之一是开发一种“非洲散居动力芯片”(ADPC),这是一种由标签 SNP 组成的基因分型阵列,可用于全面识别非洲特有的遗传变异。该阵列是基于在具有高覆盖率全基因组序列数据(~30×深度)的 642 个非洲裔 CAAPA 样本中鉴定出的新型变异设计的。这种新型变异将 1000 基因组和外显子测序计划中记录的变异模式扩展到了代表西非基因组多样性广泛范围的一系列人群。来自 CAAPA 的这些个体也构成了非洲散居人群的一大片,并且包含了涵盖整个美洲大西洋沿岸的历史遗传多样性。在这里,我们展示了设计和生产这种微芯片阵列的结果。这种新型阵列比其他市售的阵列更好地覆盖了非洲特有的变异,并且将使具有其研究人群中非洲血统个体的研究人员能够进行更好的 GWAS 分析。最近一项对非洲大陆人群中变异进行编目的研究表明,这种类型的非洲特异性基因分型阵列对于促进非洲裔人群的大规模 GWAS 是必要且有价值的。