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PMID: 18984575 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

Population genetic inference from resequencing data.

Genetics ·Vol. 181 ·No. 1 ·2009-01-00 ·Pages 187-97

Jiang R, Tavaré S, Marjoram P

Abstract

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 evolutionary 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 can be used when no reference genome is available.

MeSH Terms
Diploidy Genetics, Population Genome, Human/genetics Homozygote Humans Linkage Disequilibrium/genetics Polymorphism, Single Nucleotide/genetics Sequence Analysis, DNA/methods
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Jiang Rong
Department of Oncology, University of Cambridge, Cambridge CB2 0RE, UK.
Tavaré Simon
Marjoram Paul
References (21)
21 references, click to expand
  1. Inference of population genetic parameters in metagenomics: a clean look at messy data.
    Genome Res. 2006 Oct;16(10):1320-7 PMID: 16954540
  2. An isochore map of human chromosomes.
    Genome Res. 2006 Apr;16(4):536-41 PMID: 16597586
  3. On the number of segregating sites in genetical models without recombination.
    Theor Popul Biol. 1975 Apr;7(2):256-76 PMID: 1145509
  4. Quality scores and SNP detection in sequencing-by-synthesis systems.
    Genome Res. 2008 May;18(5):763-70 PMID: 18212088
  5. The fine-scale structure of recombination rate variation in the human genome.
    Science. 2004 Apr 23;304(5670):581-4 PMID: 15105499
  6. Statistical properties of the number of recombination events in the history of a sample of DNA sequences.
    Genetics. 1985 Sep;111(1):147-64 PMID: 4029609
  7. Whole-genome re-sequencing.
    Curr Opin Genet Dev. 2006 Dec;16(6):545-52 PMID: 17055251
  8. Base-calling of automated sequencer traces using phred. II. Error probabilities.
    Genome Res. 1998 Mar;8(3):186-94 PMID: 9521922
  9. Two-locus sampling distributions and their application.
    Genetics. 2001 Dec;159(4):1805-17 PMID: 11779816
  10. Inferring population parameters from single-feature polymorphism data.
    Genetics. 2006 Aug;173(4):2257-67 PMID: 16702439
  11. Advanced sequencing technologies: methods and goals.
    Nat Rev Genet. 2004 May;5(5):335-44 PMID: 15143316
  12. Whole-genome sequencing and variant discovery in C. elegans.
    Nat Methods. 2008 Feb;5(2):183-8 PMID: 18204455
  13. An utter refutation of the "fundamental theorem of the HapMap".
    Eur J Hum Genet. 2006 Apr;14(4):426-37 PMID: 16479260
  14. Paired-end mapping reveals extensive structural variation in the human genome.
    Science. 2007 Oct 19;318(5849):420-6 PMID: 17901297
  15. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
    Nat Genet. 1999 Jul;22(3):239-47 PMID: 10391210
  16. The sequence of the human genome.
    Science. 2001 Feb 16;291(5507):1304-51 PMID: 11181995
  17. Fragment assembly with short reads.
    Bioinformatics. 2004 Sep 1;20(13):2067-74 PMID: 15059830
  18. Next generation sequencing technologies.
    Drug Discov Today Technol. 2005 Autumn;2(3):255-60 PMID: 24981944
  19. Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals.
    Genome Res. 2008 Jul;18(7):1020-9 PMID: 18411405
  20. Genome sequencing in microfabricated high-density picolitre reactors.
    Nature. 2005 Sep 15;437(7057):376-80 PMID: 16056220
  21. Accurate multiplex polony sequencing of an evolved bacterial genome.
    Science. 2005 Sep 9;309(5741):1728-32 PMID: 16081699
Article Info
Journal
Genetics
Abbr.
Genetics
ISSN
0016-6731
Published
2009-01-00
Epub
2008-00-03
Pages
187-97
Language
English
Region
United States
NLM ID
0374636
PMCID
PMC2621167
Subset
IM
Grants
NIGMS NIH HHS · R01 GM067243 · United States
NHGRI NIH HHS · HG002790 · United States
NIGMS NIH HHS · R01 GM069890 · United States
NIGMS NIH HHS · GM67243 · United States
NIMH NIH HHS · R01 MH084678 · United States
NHLBI NIH HHS · U01 HL084706 · United States
NIMH NIH HHS · MH084678 · United States
NHLBI NIH HHS · HL084706 · United States
NIGMS NIH HHS · GM069890 · United States
NHGRI NIH HHS · P50 HG002790 · United States
Corrections
ErratumIn
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