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YMrCA:改进用于DNA亲属关系研究的Y染色体祖先时间估计

YMrCA: Improving Y-chromosomal ancestor time estimation for DNA kinship research.

作者信息

Claerhout Sofie, Vanpaemel Simon, Gill Mandev S, Antiga Laura G, Baele Guy, Decorte Ronny

机构信息

Department of Imaging & Pathology, KU Leuven, Forensic Biomedical Sciences, Leuven, Belgium.

Department of Mechanical Engineering, KU Leuven, Noise and Vibration Engineering, Heverlee, Belgium.

出版信息

Hum Mutat. 2021 Oct;42(10):1307-1320. doi: 10.1002/humu.24259. Epub 2021 Jul 29.

Abstract

The Y-chromosome is a valuable kinship indicator in family history and forensic research. To reconstruct genealogies, the time to the most recent common ancestor (tMRCA) between paternal relatives can be estimated through Y-STR analysis. Existing models are the stepwise mutation model (SMM, only one-step Y-STR changes) and the infinite allele model (IAM, new allele per Y-STR change). In this study, these mutation models and all existing tMRCA calculators were validated through a genetic-genealogy database containing 1,120 biologically related genealogical pairs confirmed by 46 Y-STRs with known tMRCA (18,109 generations). Consistent under- and overestimation and broad confidence intervals were observed, leading to dubious tMRCA estimates. This is because they do not include individual mutation rates or multi-step changes and ignore hidden multiple, back, or parallel modifications. To improve tMRCA estimation, we developed a user-friendly calculator, the "YMrCA", including all previously mentioned mutation characteristics. After extensive validation, we observed that the YMrCA calculator demonstrated a promising performance. The YMrCA yields a significantly higher tMRCA success rate (96%; +20%) and a lower tMRCA error (7; -3) compared to the mutation models and all online tMRCA calculators. Therefore, YMrCA offers the next step towards more objective tMRCA estimation for DNA kinship research.

摘要

Y染色体是家族史和法医研究中一种有价值的亲属关系指标。为了重建族谱,可以通过Y-STR分析估计父系亲属之间到最近共同祖先的时间(tMRCA)。现有的模型是逐步突变模型(SMM,Y-STR仅一步变化)和无限等位基因模型(IAM,每次Y-STR变化产生新等位基因)。在本研究中,通过一个遗传族谱数据库对这些突变模型和所有现有的tMRCA计算器进行了验证,该数据库包含1120对经生物学确认的亲属族谱对,由46个已知tMRCA(18109代)的Y-STR进行验证。观察到一致的低估和高估以及宽泛的置信区间,导致tMRCA估计结果存疑。这是因为它们没有考虑个体突变率或多步变化,并且忽略了隐藏的多重、反向或平行修饰。为了改进tMRCA估计,我们开发了一个用户友好的计算器“YMrCA”,包括所有上述突变特征。经过广泛验证,我们观察到YMrCA计算器表现出良好的性能。与突变模型和所有在线tMRCA计算器相比,YMrCA产生的tMRCA成功率显著更高(96%;提高20%),tMRCA误差更低(7;降低3)。因此,YMrCA为DNA亲属关系研究中更客观的tMRCA估计迈出了下一步。

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