GLANET: genomic loci annotation and enrichment tool.

Burçak Otlu, Can Firtina, Sündüz Keles, Oznur Tastan
Author Information
  1. Burçak Otlu: Department of Computer Engineering, Middle East Technical University, 06800, Ankara, Turkey.
  2. Can Firtina: Department of Computer Engineering, Bilkent University, 06800, Ankara, Turkey.
  3. Sündüz Keles: Department of Statistics, Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI 53706, USA.
  4. Oznur Tastan: Department of Computer Engineering, Bilkent University, 06800, Ankara, Turkey.

Abstract

MOTIVATION: Genomic studies identify genomic loci representing genetic variations, transcription factor (TF) occupancy, or histone modification through next generation sequencing (NGS) technologies. Interpreting these loci requires evaluating them with known genomic and epigenomic annotations.
RESULTS: We present GLANET as a comprehensive annotation and enrichment analysis tool which implements a sampling-based enrichment test that accounts for GC content and/or mappability biases, jointly or separately. GLANET annotates and performs enrichment analysis on these loci with a rich library. We introduce and perform novel data-driven computational experiments for assessing the power and Type-I error of its enrichment procedure which show that GLANET has attained high statistical power and well-controlled Type-I error rate. As a key feature, users can easily extend its library with new gene sets and genomic intervals. Other key features include assessment of impact of single nucleotide variants (SNPs) on TF binding sites and regulation based pathway enrichment analysis.
AVAILABILITY AND IMPLEMENTATION: GLANET can be run using its GUI or on command line. GLANET's source code is available at https://github.com/burcakotlu/GLANET . Tutorials are provided at https://glanet.readthedocs.org .
CONTACT: burcak@ceng.metu.edu.tr or oznur.tastan@cs.bilkent.edu.tr.
SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

References

  1. Nat Genet. 2000 May;25(1):25-9 [PMID: 10802651]
  2. J Clin Psychiatry. 2002 Dec;63(12):1106-12 [PMID: 12523869]
  3. Blood. 2006 Mar 1;107(5):1857-63 [PMID: 16254139]
  4. Cell. 2007 May 18;129(4):823-37 [PMID: 17512414]
  5. Nucleic Acids Res. 2008 Jul 1;36(Web Server issue):W119-27 [PMID: 18495751]
  6. Nat Biotechnol. 2009 Jan;27(1):66-75 [PMID: 19122651]
  7. Am J Hum Genet. 2009 Jul;85(1):13-24 [PMID: 19539887]
  8. Nucleic Acids Res. 2010 Jan;38(3):e13 [PMID: 19906703]
  9. Bioinformatics. 2010 Apr 1;26(7):976-8 [PMID: 20179076]
  10. Nat Biotechnol. 2010 May;28(5):495-501 [PMID: 20436461]
  11. Bioinformatics. 2010 Aug 15;26(16):2069-70 [PMID: 20562413]
  12. Nucleic Acids Res. 2010 Sep;38(16):e164 [PMID: 20601685]
  13. BMC Bioinformatics. 2011 Mar 17;12:77 [PMID: 21414208]
  14. Nucleic Acids Res. 2011 Aug;39(15):e103 [PMID: 21646344]
  15. Nucleic Acids Res. 2011 Sep 1;39(17):7428-43 [PMID: 21685456]
  16. PLoS Comput Biol. 2011 Jul;7(7):e1002111 [PMID: 21779159]
  17. Nucleic Acids Res. 2012 Jan;40(Database issue):D930-4 [PMID: 22064851]
  18. Nucleic Acids Res. 2012 Jan;40(Database issue):D109-14 [PMID: 22080510]
  19. Biotechniques. 2012 Feb;52(2):87-94 [PMID: 22313406]
  20. Nucleic Acids Res. 2012 May;40(10):e72 [PMID: 22323520]
  21. Bioinformatics. 2012 Jul 1;28(13):1797-9 [PMID: 22513993]
  22. Nucleic Acids Res. 2012 Oct;40(18):e139 [PMID: 22684628]
  23. Fly (Austin). 2012 Apr-Jun;6(2):80-92 [PMID: 22728672]
  24. Mol Psychiatry. 2013 Jul;18(7):788-98 [PMID: 22889921]
  25. Nature. 2012 Sep 6;489(7414):57-74 [PMID: 22955616]
  26. Genome Res. 2012 Sep;22(9):1790-7 [PMID: 22955989]
  27. Genome Med. 2012 Sep 26;4(9):73 [PMID: 23013645]
  28. Nature. 2012 Nov 1;491(7422):56-65 [PMID: 23128226]
  29. PLoS One. 2013 Apr 29;8(4):e62856 [PMID: 23638157]
  30. Bioinformatics. 2013 Aug 1;29(15):1922-4 [PMID: 23732275]
  31. Bioinformatics. 2013 Aug 15;29(16):2046-8 [PMID: 23782611]
  32. Nucleic Acids Res. 2014 Jan;42(Database issue):D142-7 [PMID: 24194598]
  33. Nucleic Acids Res. 2014 Mar;42(5):2976-87 [PMID: 24335146]
  34. Bioinformatics. 2014 May 1;30(9):1287-9 [PMID: 24413675]
  35. Mol Cell. 2014 Mar 20;53(6):979-92 [PMID: 24656132]
  36. Circulation. 2015 Feb 10;131(6):536-49 [PMID: 25533967]
  37. Blood. 1997 May 15;89(10):3636-43 [PMID: 9160668]

Grants

  1. R01 HG003747/NHGRI NIH HHS

MeSH Term

DNA
Epigenomics
Genetic Loci
Genome, Human
Genomics
High-Throughput Nucleotide Sequencing
Humans
Molecular Sequence Annotation
Polymorphism, Single Nucleotide
Protein Binding
Sequence Analysis, DNA
Software
Transcription Factors

Chemicals

Transcription Factors
DNA

Word Cloud

Created with Highcharts 10.0.0enrichmentgenomiclociGLANETanalysisTFannotationtoollibrarypowerType-IerrorkeycanavailableedutrMOTIVATION:GenomicstudiesidentifyrepresentinggeneticvariationstranscriptionfactoroccupancyhistonemodificationnextgenerationsequencingNGStechnologiesInterpretingrequiresevaluatingknownepigenomicannotationsRESULTS:presentcomprehensiveimplementssampling-basedtestaccountsGCcontentand/ormappabilitybiasesjointlyseparatelyannotatesperformsrichintroduceperformnoveldata-drivencomputationalexperimentsassessingprocedureshowattainedhighstatisticalwell-controlledratefeatureuserseasilyextendnewgenesetsintervalsfeaturesincludeassessmentimpactsinglenucleotidevariantsSNPsbindingsitesregulationbasedpathwayAVAILABILITYANDIMPLEMENTATION:runusingGUIcommandlineGLANET'ssourcecodehttps://githubcom/burcakotlu/GLANETTutorialsprovidedhttps://glanetreadthedocsorgCONTACT:burcak@cengmetuoznurtastan@csbilkentSUPPLEMENTARYINFORMATION:SupplementarydataBioinformaticsonlineGLANET:

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