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用于 Y 单倍群预测的软件:需谨慎使用。

Software for Y-haplogroup predictions: a word of caution.

机构信息

Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CICPBA, CCT, La Plata-CONICET, Argentina.

出版信息

Int J Legal Med. 2011 Jan;125(1):143-7. doi: 10.1007/s00414-009-0404-1. Epub 2010 Jan 15.

DOI:10.1007/s00414-009-0404-1
PMID:20082090
Abstract

The development of online software designed for genetic studies has been exponentially growing, providing numerous benefits to the scientific community. However, they should be used with care, since some require adjustments. The efficiency of two programs for haplogroup prediction was tested with 119 samples of known haplotypes and haplogroups from Argentine populations. Quantitative estimates of the predictive quality of both software systems were computed with the uncertainty coefficient; and sensitivity, specificity, positive, and negative likelihood ratios were also calculated to assert the reliability of both programs, showing high probabilities of assigning an incorrect haplogroup.

摘要

专为遗传研究设计的在线软件的发展呈指数级增长,为科学界带来了众多好处。但是,应该谨慎使用,因为有些软件需要进行调整。使用 119 个已知来自阿根廷人群的单倍型和单倍群的样本,测试了两个单倍群预测程序的效率。使用不确定性系数计算了这两个软件系统的预测质量的定量估计;还计算了灵敏度、特异性、阳性和阴性似然比,以确定这两个程序的可靠性,表明分配错误单倍群的概率很高。

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Machine-learning approaches for classifying haplogroup from Y chromosome STR data.
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