Home LiteratureArticle Details
PMID: 18341692 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Genome assembly forensics: finding the elusive mis-assembly.

Genome biology ·Vol. 9 ·No. 3 ·2008-00-00 ·Pages R55

Phillippy AM, Schatz MC, Pop M

Abstract

We present the first collection of tools aimed at automated genome assembly validation. This work formalizes several mechanisms for detecting mis-assemblies, and describes their implementation in our automated validation pipeline, called amosvalidate. We demonstrate the application of our pipeline in both bacterial and eukaryotic genome assemblies, and highlight several assembly errors in both draft and finished genomes. The software described is compatible with common assembly formats and is released, open-source, at http://amos.sourceforge.net.

MeSH Terms
Animals Artifacts Bacillus anthracis/genetics Drosophila/genetics Genome Quality Control Sensitivity and Specificity Sequence Analysis, DNA/methods Software Tandem Repeat Sequences
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Phillippy Adam M
Center for Bioinformatics and Computational Biology, University of Maryland, College Park, MD 20742, USA. amp@umiacs.umd.edu
Schatz Michael C
Pop Mihai
References (38)
38 references, click to expand
  1. The accuracy of DNA sequences: estimating sequence quality.
    Genomics. 1992 Sep;14(1):89-98 PMID: 1358801
  2. Genome sequence, comparative analysis and haplotype structure of the domestic dog.
    Nature. 2005 Dec 8;438(7069):803-19 PMID: 16341006
  3. BACCardI--a tool for the validation of genomic assemblies, assisting genome finishing and intergenome comparison.
    Bioinformatics. 2005 Apr 1;21(7):853-9 PMID: 15514001
  4. Quality assessment of the human genome sequence.
    Nature. 2004 May 27;429(6990):365-8 PMID: 15164052
  5. Assembly reconciliation.
    Bioinformatics. 2008 Jan 1;24(1):42-5 PMID: 18057021
  6. Initial sequencing and analysis of the human genome.
    Nature. 2001 Feb 15;409(6822):860-921 PMID: 11237011
  7. Whole-genome sequence assembly for mammalian genomes: Arachne 2.
    Genome Res. 2003 Jan;13(1):91-6 PMID: 12529310
  8. The Staden package, 1998.
    Methods Mol Biol. 2000;132:115-30 PMID: 10547834
  9. A whole-genome assembly of Drosophila.
    Science. 2000 Mar 24;287(5461):2196-204 PMID: 10731133
  10. The phusion assembler.
    Genome Res. 2003 Jan;13(1):81-90 PMID: 12529309
  11. The genome Assembly Archive: a new public resource.
    PLoS Biol. 2004 Sep;2(9):E285 PMID: 15367931
  12. An intermediate grade of finished genomic sequence suitable for comparative analyses.
    Genome Res. 2004 Nov;14(11):2235-44 PMID: 15479945
  13. Versatile and open software for comparing large genomes.
    Genome Biol. 2004;5(2):R12 PMID: 14759262
  14. A comparison of the Celera and Ensembl predicted gene sets reveals little overlap in novel genes.
    Cell. 2001 Aug 24;106(4):413-5 PMID: 11534548
  15. Shotgun sequence assembly and recent segmental duplications within the human genome.
    Nature. 2004 Oct 21;431(7011):927-30 PMID: 15496912
  16. Whole-genome shotgun assembly and comparison of human genome assemblies.
    Proc Natl Acad Sci U S A. 2004 Feb 17;101(7):1916-21 PMID: 14769938
  17. A tool for analyzing mate pairs in assemblies (TAMPA).
    J Comput Biol. 2005 Jun;12(5):497-513 PMID: 15952874
  18. Consed: a graphical tool for sequence finishing.
    Genome Res. 1998 Mar;8(3):195-202 PMID: 9521923
  19. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
    Genome Biol. 2003;4(4):R25 PMID: 12702206
  20. Simple tandem DNA repeats and human genetic disease.
    Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3636-41 PMID: 7731957
  21. Hawkeye: an interactive visual analytics tool for genome assemblies.
    Genome Biol. 2007;8(3):R34 PMID: 17349036
  22. Tandem repeats finder: a program to analyze DNA sequences.
    Nucleic Acids Res. 1999 Jan 15;27(2):573-80 PMID: 9862982
  23. Separation of nearly identical repeats in shotgun assemblies using defined nucleotide positions, DNPs.
    Bioinformatics. 2002 Mar;18(3):379-88 PMID: 11934736
  24. Beware of mis-assembled genomes.
    Bioinformatics. 2005 Dec 15;21(24):4320-1 PMID: 16332717
  25. DNPTrapper: an assembly editing tool for finishing and analysis of complex repeat regions.
    BMC Bioinformatics. 2006 Mar 20;7:155 PMID: 16549006
  26. Comparative analysis of human genome assemblies reveals genome-level differences.
    Genomics. 2002 Aug;80(2):138-9 PMID: 12160725
  27. Genomic mapping by fingerprinting random clones: a mathematical analysis.
    Genomics. 1988 Apr;2(3):231-9 PMID: 3294162
  28. Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences.
    Nature. 2007 May 10;447(7141):167-77 PMID: 17495919
  29. Toward simplifying and accurately formulating fragment assembly.
    J Comput Biol. 1995 Summer;2(2):275-90 PMID: 7497129
  30. Base-calling of automated sequencer traces using phred. II. Error probabilities.
    Genome Res. 1998 Mar;8(3):186-94 PMID: 9521922
  31. Comparative genome sequencing for discovery of novel polymorphisms in Bacillus anthracis.
    Science. 2002 Jun 14;296(5575):2028-33 PMID: 12004073
  32. PCAP: a whole-genome assembly program.
    Genome Res. 2003 Sep;13(9):2164-70 PMID: 12952883
  33. Genome sequencing in microfabricated high-density picolitre reactors.
    Nature. 2005 Sep 15;437(7057):376-80 PMID: 16056220
  34. Fast algorithms for large-scale genome alignment and comparison.
    Nucleic Acids Res. 2002 Jun 1;30(11):2478-83 PMID: 12034836
  35. Human genome: end of the beginning.
    Nature. 2004 Oct 21;431(7011):915-6 PMID: 15496902
  36. Computational comparison of human genomic sequence assemblies for a region of chromosome 4.
    Genome Res. 2002 Mar;12(3):424-9 PMID: 11875030
  37. ARACHNE: a whole-genome shotgun assembler.
    Genome Res. 2002 Jan;12(1):177-89 PMID: 11779843
  38. The sequence of the human genome.
    Science. 2001 Feb 16;291(5507):1304-51 PMID: 11181995
Article Info
Journal
Genome biology
Abbr.
Genome Biol
ISSN
1474-760X
Published
2008-00-00
Epub
2008-00-14
Pages
R55
Language
English
Region
England
NLM ID
100960660
PMCID
PMC2397507
Subset
IM
Grants
NLM NIH HHS · R01 LM006845 · United States
NLM NIH HHS · R01 LM007938 · United States
NLM NIH HHS · R01-LM007938 · United States
NLM NIH HHS · R01-LM06845 · United States
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com