用于捕获和猎枪古代DNA数据共同分析的SNP面板。

IF 6.3 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Romain Fournier, Alice Pearson Fulton, Daniel Tabin, David Reich
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引用次数: 0

摘要

技术的进步降低了从古人身上获取基因数据的成本,从而使拥有全基因组数据的个人数量呈指数级增长。然而,这些技术带有平台特定的偏见,限制了使用不同技术测序的个体的共同分析能力,以及现代和古代个体的联合分析。在这里,我们提出了一种方法,以最小的技术特异性偏差识别单核苷酸多态性(snp)。利用来自18,000多个个体的数据,我们应用这种方法来识别一组大约100万个snp,我们称之为“兼容性”面板,这些snp已在迄今发表的大部分古代人类DNA实验中得到有效分析。我们还确定了这些snp的一个子集,即“兼容性-HO”面板,该面板仅限于使用Affymetrix人类起源(HO)基因分型阵列对来自1000多个不同人群的10,000多名现代人进行分析的位置。兼容性面板减少了由于不同测序平台导致的虚假z分数,减少了近一个数量级,同时保留了60%-85%的f统计分析统计能力。我们还为用户提供了一个工具,以选择偏差和功率之间的不同权衡,以及测序平台,为他们的具体分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A SNP panel for coanalysis of capture and shotgun ancient DNA data.

Advances in technology have decreased the cost of generating genetic data from ancient people, resulting in exponentially increasing numbers of individuals with whole-genome data. However, these technologies come with platform-specific biases, limiting coanalyzability of individuals sequenced with different technologies as well as joint analysis of modern and ancient individuals. Here, we present a method to identify single-nucleotide polymorphisms (SNPs) with minimal technology-specific bias. Leveraging data from more than 18,000 individuals, we apply this method to identify a set of around 1 million SNPs that we call the "compatibility" panel, which has been effectively assayed in a large fraction of ancient human DNA experiments published to date. We also identify a subset of these SNPs, the "compatibility-HO" panel, which are restricted to positions that have been assayed in more than 10,000 modern people from more than 1000 diverse populations using the Affymetrix Human Origins (HO) genotyping array. The compatibility panel reduces spurious Z-scores owing to differing sequencing platforms by nearly an order of magnitude, while retaining ∼60%-85% of statistical power for f-statistic analysis. We also provide a tool for users to select different tradeoffs between bias and power as well as sequencing platforms for their specific analyses.

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来源期刊
Genome research
Genome research 生物-生化与分子生物学
CiteScore
12.40
自引率
1.40%
发文量
140
审稿时长
6 months
期刊介绍: Launched in 1995, Genome Research is an international, continuously published, peer-reviewed journal that focuses on research that provides novel insights into the genome biology of all organisms, including advances in genomic medicine. Among the topics considered by the journal are genome structure and function, comparative genomics, molecular evolution, genome-scale quantitative and population genetics, proteomics, epigenomics, and systems biology. The journal also features exciting gene discoveries and reports of cutting-edge computational biology and high-throughput methodologies. New data in these areas are published as research papers, or methods and resource reports that provide novel information on technologies or tools that will be of interest to a broad readership. Complete data sets are presented electronically on the journal''s web site where appropriate. The journal also provides Reviews, Perspectives, and Insight/Outlook articles, which present commentary on the latest advances published both here and elsewhere, placing such progress in its broader biological context.
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