Population Genetic Inference From Resequencing Data

被引:40
作者
Jiang, Rong [2 ]
Tavare, Simon [2 ,3 ]
Marjoram, Paul [1 ]
机构
[1] Univ So Calif, Dept Prevent Med, Keck Sch Med, Los Angeles, CA 90089 USA
[2] Univ So Calif, Mol & Computat Biol Program, Los Angeles, CA 90089 USA
[3] Univ Cambridge, Dept Oncol, Cambridge CB2 0RE, England
基金
美国国家卫生研究院;
关键词
PARAMETERS; NUMBER;
D O I
10.1534/genetics.107.080630
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This article is concerned with statistical modeling of shotgun resequencing data and the use Of Such data for population genetic inference. We model data produced by sequencing-by-synthesis technologies such as the Solexa, 454, and polymerase colony (polony) systems, whose Use is becoming increasingly widespread. We show how Such data can be used to estimate evolutionarily parameters (Mutation and recombination rates), despite the fact that the data do not necessarily provide complete or aligned sequence information. We also present two refinements of our methods: one that, is more robust. to sequencing errors and another that. call be used when no reference genome is available.
引用
收藏
页码:187 / 197
页数:11
相关论文
共 22 条
[1]   Whole-genome re-sequencing [J].
Bentley, David R. .
CURRENT OPINION IN GENETICS & DEVELOPMENT, 2006, 16 (06) :545-552
[2]   Quality scores and SNP detection in sequencing-by-synthesis systems [J].
Brockman, William ;
Alvarez, Pablo ;
Young, Sarah ;
Garber, Manuel ;
Giannoukos, Georgia ;
Lee, William L. ;
Russ, Carsten ;
Lander, Eric S. ;
Nusbaum, Chad ;
Jaffe, David B. .
GENOME RESEARCH, 2008, 18 (05) :763-770
[3]   Fragment assembly with short reads [J].
Chaisson, M ;
Pevzner, P ;
Tang, HX .
BIOINFORMATICS, 2004, 20 (13) :2067-2074
[4]   An isochore map of human chromosomes [J].
Costantini, M ;
Clay, O ;
Auletta, F ;
Bernardi, G .
GENOME RESEARCH, 2006, 16 (04) :536-541
[5]   Base-calling of automated sequencer traces using phred.: II.: Error probabilities [J].
Ewing, B ;
Green, P .
GENOME RESEARCH, 1998, 8 (03) :186-194
[6]  
Griffiths Robert C., 1998, Stoch. Model, V14, P273, DOI [10.1080/15326349808807471, DOI 10.1080/15326349808807471]
[7]   Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis [J].
Halushka, MK ;
Fan, JB ;
Bentley, K ;
Hsie, L ;
Shen, NP ;
Weder, A ;
Cooper, R ;
Lipshutz, R ;
Chakravarti, A .
NATURE GENETICS, 1999, 22 (03) :239-247
[8]   Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals [J].
Hellmann, Ines ;
Mang, Yuan ;
Gu, Zhiping ;
Li, Peter ;
de la Vega, Francisco M. ;
Clark, Andrew G. ;
Nielsen, Rasmus .
GENOME RESEARCH, 2008, 18 (07) :1020-1029
[9]   Whole-genome sequencing and variant discovery in C-elegans [J].
Hillier, LaDeana W. ;
Marth, Gabor T. ;
Quinlan, Aaron R. ;
Dooling, David ;
Fewell, Ginger ;
Barnett, Derek ;
Fox, Paul ;
Glasscock, Jarret I. ;
Hickenbotham, Matthew ;
Huang, Weichun ;
Magrini, Vincent J. ;
Richt, Ryan J. ;
Sander, Sacha N. ;
Stewart, Donald A. ;
Stromberg, Michael ;
Tsung, Eric F. ;
Wylie, Todd ;
Schedl, Tim ;
Wilson, Richard K. ;
Mardis, Elaine R. .
NATURE METHODS, 2008, 5 (02) :183-188
[10]  
Hudson RR, 2001, GENETICS, V159, P1805