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The Identification of a 1916 Irish Rebel: New Approach for Estimating Relatedness From Low Coverage Homozygous Genomes

机译:鉴定1916年爱尔兰反叛者:估算低覆盖纯合子基因组织相关性的新方法

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Thomas Kent was an Irish rebel who was executed by British forces in the aftermath of the Easter Rising armed insurrection of 1916 and buried in a shallow grave on Cork prison’s grounds. In 2015, ninety-nine years after his death, a state funeral was offered to his living family to honor his role in the struggle for Irish independence. However, inaccuracies in record keeping did not allow the bodily remains that supposedly belonged to Kent to be identified with absolute certainty. Using a novel approach based on homozygous single nucleotide polymorphisms, we identified these remains to be those of Kent by comparing his genetic data to that of two known living relatives. As the DNA degradation found on Kent’s DNA, characteristic of ancient DNA, rendered traditional methods of relatedness estimation unusable, we forced all loci homozygous, in a process we refer to as “forced homozygote approach”. The results were confirmed using simulated data for different relatedness classes. We argue that this method provides a necessary alternative for relatedness estimations, not only in forensic analysis, but also in ancient DNA studies, where reduced amounts of genetic information can limit the application of traditional methods.
机译:托马斯·肯特是一名爱尔兰反叛者,在1916年的复活节武装起义的武装起义之后被英国部队执行,并在科克监狱的理由埋葬了一个浅浅的坟墓。在2015年,他去世后九十九年,向他的生活家庭提供了一个国家葬礼,以纪念他在爱尔兰独立的斗争中的作用。然而,记录保存的不准确性不允许据称属于肯定的身体仍然是以绝对的确定性识别的。使用基于纯合单核苷酸多态性的新方法,我们通过将他的遗传数据与两个已知的生活亲属的遗传数据进行比较来确定这些遗体是肯特的。随着在肯特的DNA中发现的DNA降解,古代DNA的特征,使传统的相关性相关性估算方法不可用,我们迫使所有基因型纯合,在一个过程中,我们称之为“强制纯粹方法”。使用针对不同相关性等级的模拟数据确认结果。我们认为这种方法为相关性估算提供了必要的替代方案,不仅在法医学分析中,而且在古代DNA研究中,遗传信息的减少量可以限制传统方法的应用。

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