Inferring Recombination Patterns In African Populations.
Inferring Recombination Patterns In African Populations.
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DOI：
10.1093/hmg/ddab020
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发表时间：
2021-01
影响因子：
3.5
通讯作者：
G. Eeden;C. Uren;M. Möller;B. Henn
中科院分区：
文献类型：
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作者：
G. Eeden;C. Uren;M. Möller;B. Henn
虽然欧洲人后裔人群存在几个高分辨率的重组图，非洲人群的重组景观仍然相对不足。鉴于非洲群体之间的遗传差异很大，重组热点也可能存在显著差异。为这些人群开发重组图谱既存在限制，也存在机会。在这篇综述中，我们讨论了各种重组推理方法，以及这些方法在分析非洲裔人群重组的优势和劣势。此外，我们提供了一个决策树和建议，其中推理方法在各种研究环境中使用。在特定研究中建立用于重组率推断的适当方法将提高各种下游分析的准确性，包括但不限于当地祖先推断、单倍型定相、GWAS基因座的精细定位和基因组组装。
While several high-resolution recombination maps exist for European-descent populations, the recombination landscape of African populations remains relatively understudied. Given that there is high genetic divergence among groups in Africa, it is possible that recombination hotspots also diverge significantly. Both limitations and opportunities exist for developing recombination maps for these populations. In this review, we discuss various recombination inference methods, and the strengths and weaknesses of these methods in analysing recombination in African-descent populations. Furthermore, we provide a decision tree and recommendations for which inference method to use in various research contexts. Establishing an appropriate methodology for recombination rate inference in a particular study will improve the accuracy of various downstream analyses including but not limited to local ancestry inference, haplotype phasing, fine-mapping of GWAS loci and genome assemblies.