期刊论文详细信息
BMC Bioinformatics
A new method for modeling coalescent processes with recombination
Shuhua Xu1  Zhi-Ming Ma2  Yuting Liu3  Xian Chen2  Linfeng Li4  Ying Zhou1  Ying Wang2 
[1]Max Planck Independent Research Group on Population Genomics, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
[2]Institute of Applied Mathematics, Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing 100190, China
[3]Department of Mathematics, School of Science, Beijing Jiaotong University, Beijing 100044, China
[4]School of Computer and Information Technology, Beijing Jiaotong University, Beijing 100044, China
关键词: Sequentially markov coalescent (SMC);    Ancestral recombination graph (ARG);    Coalescence;    Recombination;   
Others  :  1086530
DOI  :  10.1186/1471-2105-15-273
 received in 2014-03-07, accepted in 2014-07-17,  发布年份 2014
PDF
【 摘 要 】

Background

Recombination plays an important role in the maintenance of genetic diversity in many types of organisms, especially diploid eukaryotes. Recombination can be studied and used to map diseases. However, recombination adds a great deal of complexity to the genetic information. This renders estimation of evolutionary parameters more difficult. After the coalescent process was formulated, models capable of describing recombination using graphs, such as ancestral recombination graphs (ARG) were also developed. There are two typical models based on which to simulate ARG: back-in-time model such as ms and spatial model including Wiuf&Hein’s, SMC, SMC’, and MaCS.

Results

In this study, a new method of modeling coalescence with recombination, Spatial Coalescent simulator (SC), was developed, which considerably improved the algorithm described by Wiuf and Hein. The present algorithm constructs ARG spatially along the sequence, but it does not produce any redundant branches which are inevitable in Wiuf and Hein’s algorithm. Interestingly, the distribution of ARG generated by the present new algorithm is identical to that generated by a typical back-in-time model adopted by ms, an algorithm commonly used to model coalescence. It is here demonstrated that the existing approximate methods such as the sequentially Markov coalescent (SMC), a related method called SMC′, and Markovian coalescent simulator (MaCS) can be viewed as special cases of the present method. Using simulation analysis, the time to the most common ancestor (TMRCA) in the local trees of ARGs generated by the present algorithm was found to be closer to that produced by ms than time produced by MaCS. Sample-consistent ARGs can be generated using the present method. This may significantly reduce the computational burden.

Conclusion

In summary, the present method and algorithm may facilitate the estimation and description of recombination in population genomics and evolutionary biology.

【 授权许可】

   
2014 Wang et al.; licensee BioMed Central Ltd.

【 预 览 】
附件列表
Files Size Format View
20150116012651745.pdf 799KB PDF download
Figure 9. 32KB Image download
Figure 8. 38KB Image download
Figure 7. 32KB Image download
Figure 6. 21KB Image download
Figure 5. 16KB Image download
Figure 4. 24KB Image download
Figure 3. 15KB Image download
Figure 2. 27KB Image download
Figure 1. 35KB Image download
【 图 表 】

Figure 1.

Figure 2.

Figure 3.

Figure 4.

Figure 5.

Figure 6.

Figure 7.

Figure 8.

Figure 9.

【 参考文献 】
  • [1]Kingman JFC: On the genealogy of large populations. J Appl Probab 1982, 19A:27-43.
  • [2]Kingman JFC: The coalescent. Stoch ProcessAppl 1982, 13:235-248.
  • [3]Hudson RR: Properties of a neutral allele model with intragenic recombination. Theor Popul Biol 1983, 23(2):183-201.
  • [4]Griffiths RCaM P: An ancestral recombination graph. Prog Popul Genet Hum Evol 1997, 87:257-270.
  • [5]Stumpf MPH, Goldstein DB: Demography, recombination hotspot intensity, and the block structure of linkage disequilibrium. Curr Biol 2003, 13:1-8.
  • [6]Hudson RR: Generating samples under a Wright&Fisher neutral model of genetic variation. Bioinformatics 2002, 18:337-338.
  • [7]Wiuf C, Hein J: Recombination as a point process along sequences. Theor Popul Biol 1999, 55:248-259.
  • [8]Marjoram P, Wall JD: Fast "coalescent" simulation. BMC Genet 2006, 7:16.
  • [9]McVean GA, Cardin NJ: Approximating the coalescent with recombination. Philos Trans R Soc Lond B Biol Sci 2005, 360(1459):1387-1393.
  • [10]Chen GK, Marjoram P, Wall JD: Fast and flexible simulation of DNA sequence data. Genome Res 2009, 19:136-142.
  • [11]Stumpf MPH, McVean GAT: Estimating recombination rates from population-genetic data. Nat Rev Genet 2003, 4(12):959-968.
  • [12]Fearnhead P, Donnelly P: Estimating recombination rates from population genetic data. Genetics 2001, 159:1299-1318.
  • [13]Kuhner MK, Beerli P, Yamato J, Felsenstein J: Usefulness of single nucleotide polymorphism data for estimating population parameters. Genetics 2000, 156:439-447.
  • [14]Nielsen R: Estimation of population parameters and recombination rates from single nucleotide polymorphisms. Genetics 2000, 154:931-942.
  • [15]Griffiths RC, Marjoram P: Ancestral inference from samples of DNA sequences with recombination. J Comput Biol 1996, 3:479-502.
  • [16]Chen X, Ma ZM, Wang Y: Markov jump processes in modeling coalescent with recombination. Ann Stat 2014, 42(4):1361-1393.
  • [17]Song YS, Hein J: Constructing minimal ancestral recombination graphs. J Comput Biol 2005, 12(2):147-169.
  • [18]Wiuf C, Hein J: The coalescent with gene conversion. Genetics 2000, 155(1):451-462.
  文献评价指标  
  下载次数:84次 浏览次数:10次