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SNPs for a universal individual identification panel

机译:适用于通用个人识别面板的SNP

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An efficient method to uniquely identify every individual would have value in quality control and sample tracking of large collections of cell lines or DNA as is now often the case with whole genome association studies. Such a method would also be useful in forensics. SNPs represent the best markers for such purposes. We have developed a globally applicable resource of 92 SNPs for individual identification (IISNPs) with extremely low probabilities of any two unrelated individuals from anywhere in the world having identical genotypes. The SNPs were identified by screening over 500 likely/candidate SNPs on samples of 44 populations representing the major regions of the world. All 92 IISNPs have an average heterozygosity >0.4 and the F st values are all <0.06 on our 44 populations making these a universally applicable panel irrespective of ethnicity or ancestry. No significant linkage disequilibrium (LD) occurs for all unique pairings of 86 of the 92 IISNPs (median LD = 0.011) in all of the 44 populations. The remaining 6 IISNPs show strong LD in most of the 44 populations for a small subset (7) of the unique pairings in which they occur due to close linkage. 45 of the 86 SNPs are spread across the 22 human autosomes and show very loose or no genetic linkage with each other. These 45 IISNPs constitute an excellent panel for individual identification including paternity testing with associated probabilities of individual genotypes less than 10−15, smaller than achieved with the current panels of forensic markers. This panel also improves on an interim panel of 40 IISNPs previously identified using 40 population samples. The unlinked status of the subset of 45 SNPs we have identified also makes them useful for situations involving close biological relationships. Comparisons with random sets of SNPs illustrate the greater discriminating power, efficiency, and more universal applicability of this IISNP panel to populations around the world. The full set of 86 IISNPs that do not show LD can be used to provide even smaller genotype match probabilities in the range of 10−31–10−35 based on the 44 population samples studied.
机译:如今,全基因组关联研究通常会采用这种有效方法来唯一地识别每个个体,从而在质量控制和大量细胞系或DNA样品追踪中具有价值。这种方法在法医中也很有用。 SNP代表用于此类目的的最佳标记。我们已经开发了92个SNP的全球适用资源,用于个人识别(IISNP),来自世界各地的具有相同基因型的任何两个不相关个体的概率极低。通过在代表世界主要地区的44个人群的样本中筛选出500多种可能/候选SNP,从而鉴定出SNP。所有92个IISNP的平均杂合度均> 0.4,F的 st 值在我们的44个群体中均<0.06,这使得这些群体成为通用的专家组,而与种族或血统无关。在所有44个种群中,对于92个IISNP中的86个(中位数LD = 0.011)的所有唯一配对,均未发生显着的连锁不平衡(LD)。剩下的6个IISNP在44个种群中的大多数中,由于紧密连锁而出现在独特配对中的一小部分(7)中,它们显示出很强的LD。 86个SNP中的45个分布在22个人类常染色体上,并且彼此之间显示非常松散或没有遗传联系。这45个IISNP构成了一个出色的个体识别面板,包括亲子鉴定,其个体基因型的相关概率小于10 -15 ,比目前的法医标记物小组要小。该小组还在以前使用40个种群样本确定的40个IISNP临时小组的基础上进行了改进。我们已经鉴定出的45个SNP子集的无关联状态也使它们对于涉及密切生物学关系的情况很有用。与随机SNP集的比较表明,该IISNP小组对世界各地的人群具有更大的区分能力,效率和更普遍的适用性。完整的86个不显示LD的IISNP可用于提供基于44个IIS的更小的基因型匹配概率,范围在10 -31 –10 -35 人口样本研究。

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