IdPrism:使用MPS SNP档案快速分析法医DNA样本

D. Ricke, James Watkins, Philip Fremont-Smith, Adam Michaleas
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引用次数: 4

摘要

大型单核苷酸多态性(SNP)面板的大规模平行测序(MPS)可以进行鉴定,分析复杂的DNA混合物样本,并扩展亲属关系预测。当从数千个SNP位点扩展到数万个SNP位点时,遇到了与SNP等位基因调用、随机人不排除计算概率以及参考和复杂混合样本与数千万个参考图谱的比较相关的计算挑战,并解决了这些挑战。MPS SNP分析管道用于法医脱氧核糖核酸(DNA)样品的数千至数万个SNP位点对数千万个参考谱的快速分析。该管道是麻省理工学院林肯实验室(MITLL) IdPrism先进DNA法医系统的一部分。
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IdPrism: Rapid Analysis of Forensic DNA Samples Using MPS SNP Profiles
Massively parallel sequencing (MPS) of large single nucleotide polymorphism (SNP) panels enables identification, analysis of complex DNA mixture samples, and extended kinship predictions. Computational challenges related to SNP allele calling, probability of random man not excluded calculations, and both reference and complex mixture sample comparisons to tens of millions of reference profiles were encountered and resolved when scaling up from thousands to tens of thousands of SNP loci. A MPS SNP analysis pipeline is described for rapid analysis of forensic deoxyribonucleic acid (DNA) samples for thousands to tens of thousands of SNP loci against tens of millions of reference profiles. This pipeline is part of the MIT Lincoln Laboratory (MITLL) IdPrism advanced DNA forensic system.
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