当前位置: X-MOL 学术Front. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data
Frontiers in Genetics ( IF 2.8 ) Pub Date : 2020-09-25 , DOI: 10.3389/fgene.2020.581041
María de la Puente , Jorge Ruiz-Ramírez , Adrián Ambroa-Conde , Catarina Xavier , Jorge Amigo , María Ángeles Casares de Cal , Antonio Gómez-Tato , Ángel Carracedo , Walther Parson , Christopher Phillips , María Victoria Lareu

The development of microhaplotype (MH) panels for massively parallel sequencing (MPS) platforms is gaining increasing relevance for forensic analysis. Here, we expand the applicability of a 102 autosomal and 11 X-chromosome panel of MHs, previously validated with both MiSeq and Ion S5 MPS platforms and designed for identification purposes. We have broadened reference population data for identification purposes, including data from 240 HGDP-CEPH individuals of native populations from North Africa, the Middle East, Oceania and America. Using the enhanced population data, the panel was evaluated as a marker set for bio-geographical ancestry (BGA) inference, providing a clear differentiation of the five main continental groups of Africa, Europe, East Asia, Native America, and Oceania. An informative degree of differentiation was also achieved for the population variation encompassing North Africa, Middle East, Europe, South Asia, and East Asia. In addition, we explored the potential for individual BGA inference from simple mixed DNA, by simulation of mixed profiles followed by deconvolution of mixture components.



中文翻译:

扩展微单倍型的定制多平台面板的适用性:生物地理先祖推断和扩展的参考数据

用于大规模平行测序(MPS)平台的微单倍型(MH)面板的开发与法医分析的相关性越来越高。在这里,我们扩展了先前通过MiSeq和Ion S5 MPS平台验证并为识别目的而设计的102个常染色体和11个X染色体MH的适用范围。为了参考目的,我们扩大了参考人口数据,包括来自北非,中东,大洋洲和美国的240位HGDP-CEPH本地人口的数据。使用增强的人口数据,该小组被评估为生物地理血统(BGA)推断的标记集,从而清楚地区分了非洲,欧洲,东亚,美洲原住民和大洋洲的五个主要大陆组。对于包括北非,中东,欧洲,南亚和东亚在内的人口变化,也实现了有意义的区分。此外,我们通过模拟混合轮廓,然后对混合物成分进行反卷积,探索了从简单的混合DNA推断出单个BGA的潜力。

更新日期:2020-10-20
down
wechat
bug