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Criteria for selecting microhaplotypes: mixture detection and deconvolution

机译：选择微单倍型的标准：混合物检测和反卷积

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Background DNA sequencing is likely to become a standard typing method in forensics in the near future. We define a microhaplotype to be a locus with two or more single nucleotide polymorphisms (SNPs) that occur within a short segment of DNA (e.g., 200?bp) that can be covered by a single sequence run and collectively define a multiallelic locus. Microhaplotypes can be highly informative for many forensic questions, including detection of mixtures of two or more sources in a DNA sample, a common problem in forensic practice. Results When all alleles are equally frequent, the probability of detecting three or more alleles in a mixture is at maximum. The classical population genetics concept of effective number of alleles at a locus, termed Ae, converts the unequal allele frequencies at a locus into a value that is equivalent to some number of equally frequent alleles, allowing microhaplotype loci to be ranked. The expectations for the ability to qualitatively detect mixtures are given for different integer values of Ae, and the cumulative probabilities of detecting mixtures based on testing multiple microhaps are shown to exceed 95% with as few as five loci with average Ae values of even slightly greater than 3.0. Conclusions Microhaplotypes with Ae values of >3 will be exceedingly useful in ordinary forensic practice. Based on our studies, 3-SNP microhaplotypes will sometimes meet this criterion, but 4-SNP microhaplotypes can even exceed this criterion and have values >4.
机译：在不久的将来，背景DNA测序可能会成为法医中的标准分型方法。我们将微单倍型定义为具有两个或多个单核苷酸多态性（SNP）的基因座，该基因座出现在DNA的短片段（例如200？bp）中，可以被单个序列覆盖并共同定义一个多等位基因座。微单倍型可以为许多法医学问题提供丰富的信息，包括检测DNA样品中两种或多种来源的混合物，这是法医学实践中的常见问题。结果当所有等位基因同等频繁时，在混合物中检测到三个或更多等位基因的可能性最大。某个位点的有效等位基因的经典种群遗传学概念称为A e ，它将一个位点上的不等位基因频率转换为一个值，该值等于一些相同频率的等位基因，从而允许微单倍型基因座排名。对于A e 的不同整数值，给出了定性检测混合物的能力的期望，并且基于测试多个微事件的检测混合物的累积概率显示超过95％，且只有五个位点平均A e 值甚至略大于3.0。结论A e 值> 3的微单倍型在普通法医实践中将非常有用。根据我们的研究，3-SNP微单倍型有时会满足该标准，但是4-SNP微单倍型甚至可以超过该标准，并且值> 4。

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