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基于 HapMap 和 1000 基因组数据库的全基因组通用个体识别 SNP 筛查。

Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases.

机构信息

Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China.

Guangdong Province Translational Forensic Medicine Engineering Technology Research Center, Sun Yat-Sen University, Guangzhou, 510080, China.

出版信息

Sci Rep. 2018 Apr 3;8(1):5553. doi: 10.1038/s41598-018-23888-0.

DOI:10.1038/s41598-018-23888-0
PMID:29615764
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5882920/
Abstract

Differences among SNP panels for individual identification in SNP-selecting and populations led to few common SNPs, compromising their universal applicability. To screen all universal SNPs, we performed a genome-wide SNP mining in multiple populations based on HapMap and 1000Genomes databases. SNPs with high minor allele frequencies (MAF) in 37 populations were selected. With MAF from ≥0.35 to ≥0.43, the number of selected SNPs decreased from 2769 to 0. A total of 117 SNPs with MAF ≥0.39 have no linkage disequilibrium with each other in every population. For 116 of the 117 SNPs, cumulative match probability (CMP) ranged from 2.01 × 10-48 to 1.93 × 10-50 and cumulative exclusion probability (CEP) ranged from 0.9999999996653 to 0.9999999999945. In 134 tested Han samples, 110 of the 117 SNPs remained within high MAF and conformed to Hardy-Weinberg equilibrium, with CMP = 4.70 × 10-47 and CEP = 0.999999999862. By analyzing the same number of autosomal SNPs as in the HID-Ion AmpliSeq Identity Panel, i.e. 90 randomized out of the 110 SNPs, our panel yielded preferable CMP and CEP. Taken together, the 110-SNPs panel is advantageous for forensic test, and this study provided plenty of highly informative SNPs for compiling final universal panels.

摘要

SNP 面板在 SNP 选择和人群中的个体识别存在差异,导致很少有常见的 SNP,从而影响其通用性。为了筛选所有通用 SNP,我们基于 HapMap 和 1000Genomes 数据库在多个群体中进行了全基因组 SNP 挖掘。选择在 37 个人群中具有高次要等位基因频率 (MAF) 的 SNP。当 MAF 从≥0.35 增加到≥0.43 时,所选 SNP 的数量从 2769 个减少到 0 个。在每个群体中,有 117 个 MAF≥0.39 的 SNP 彼此之间没有连锁不平衡。对于 117 个 SNP 中的 116 个,累积匹配概率 (CMP) 范围从 2.01×10-48 到 1.93×10-50,累积排除概率 (CEP) 范围从 0.9999999996653 到 0.9999999999945。在 134 个测试的汉族样本中,117 个 SNP 中有 110 个保持在高 MAF 范围内并符合 Hardy-Weinberg 平衡,CMP=4.70×10-47,CEP=0.999999999862。通过分析与 HID-Ion AmpliSeq Identity 面板中相同数量的常染色体 SNP,即 110 个 SNP 中的 90 个随机 SNP,我们的面板产生了更好的 CMP 和 CEP。综上所述,110-SNP 面板有利于法医检验,本研究为最终通用面板的编制提供了大量信息丰富的 SNP。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9673/5882920/2b20eb493481/41598_2018_23888_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9673/5882920/2b20eb493481/41598_2018_23888_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9673/5882920/2b20eb493481/41598_2018_23888_Fig1_HTML.jpg

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2
Genome-wide screening for highly discriminative SNPs for personal identification and their assessment in world populations.用于个人识别的高鉴别力单核苷酸多态性(SNP)的全基因组筛选及其在世界人群中的评估。
Forensic Sci Int Genet. 2017 May;28:118-127. doi: 10.1016/j.fsigen.2017.02.005. Epub 2017 Feb 16.
3
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Front Genet. 2022 Sep 5;13:944580. doi: 10.3389/fgene.2022.944580. eCollection 2022.
4
Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers.利用231个分子标记的六个不同类别对中国西北回族群体的法医特征和遗传背景进行全面洞察。
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5
A novel computational strategy to predict the value of the evidence in the SNP-based forensic mixtures.一种新的计算策略,用于预测 SNP 基础法医混合物中证据价值。
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6
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Developmental validation of the MiSeq FGx Forensic Genomics System for Targeted Next Generation Sequencing in Forensic DNA Casework and Database Laboratories.
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4
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5
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6
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Forensic Sci Int Genet. 2016 Jan;20:20-29. doi: 10.1016/j.fsigen.2015.09.009. Epub 2015 Sep 21.
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