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用于通用个体识别面板的 SNPs。

SNPs for a universal individual identification panel.

机构信息

Department of Genetics, Yale University School of Medicine, 333 Cedar Street, 208005, New Haven, CT 06520, USA.

出版信息

Hum Genet. 2010 Mar;127(3):315-24. doi: 10.1007/s00439-009-0771-1.

Abstract

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.

摘要

一种能够唯一识别每个人的高效方法将在质量控制和大量细胞系或 DNA 样本跟踪中具有价值,因为目前全基因组关联研究通常就是这种情况。这种方法在法医学中也将很有用。SNP 是此类目的的最佳标记。我们开发了一种适用于全球的 92 个个体识别 SNP(IISNP)资源,来自世界任何地方的两个无关个体具有相同基因型的概率极低。这些 SNP 是通过对代表世界主要地区的 44 个群体的样本中超过 500 个可能/候选 SNP 进行筛选而确定的。所有 92 个 IISNP 的平均杂合度为[0.4,并且在我们的 44 个群体中,F(st)值均为\0.06,这使得无论种族或祖先如何,这些 SNP 都是普遍适用的面板。在所有 44 个群体中,所有 86 个 IISNP 的 86 个独特配对中均未发生显著的连锁不平衡(LD)(中位数 LD=0.011)。由于紧密连锁,在大多数 44 个群体中,其余 6 个 IISNP 对其中一小部分(7)独特配对显示出强烈的 LD。86 个 SNP 中有 45 个分布在 22 个人类常染色体上,彼此之间显示出非常松散或没有遗传连锁。这 45 个 IISNP 构成了一个极好的个体识别面板,包括亲子鉴定,个体基因型的相关概率小于 10(-15),小于当前法医标记物面板所达到的概率。与先前使用 40 个群体样本鉴定的 40 个 IISNP 临时面板相比,该面板也有所改进。我们确定的这 45 个 SNP 子集的非连锁状态也使它们在涉及密切生物学关系的情况下有用。与随机 SNP 集的比较说明了该 IISNP 面板对世界各地人群的更高鉴别力、效率和更普遍适用性。在研究的 44 个群体样本的基础上,不显示 LD 的 86 个 IISNP 的完整集合可用于提供更小的基因型匹配概率,范围在 10(-31)-10(-35)之间。

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