期刊论文详细信息
BMC Systems Biology
EnRICH: Extraction and Ranking using Integration and Criteria Heuristics
Jeanne M Serb1  M Heather West Greenlee2  Xia Zhang1 
[1] Interdepartmental Genetics Program, Iowa State University, Ames, Iowa, USA;Bioinformatics and Computational Biology Program, Iowa State University, Ames, Iowa, USA
关键词: Candidate prioritization;    Network visualization;    Network;    Heterogeneous data;    High-throughput data;    Qualitative integration;   
Others  :  1143229
DOI  :  10.1186/1752-0509-7-4
 received in 2012-04-11, accepted in 2013-01-07,  发布年份 2013
PDF
【 摘 要 】

Background

High throughput screening technologies enable biologists to generate candidate genes at a rate that, due to time and cost constraints, cannot be studied by experimental approaches in the laboratory. Thus, it has become increasingly important to prioritize candidate genes for experiments. To accomplish this, researchers need to apply selection requirements based on their knowledge, which necessitates qualitative integration of heterogeneous data sources and filtration using multiple criteria. A similar approach can also be applied to putative candidate gene relationships. While automation can assist in this routine and imperative procedure, flexibility of data sources and criteria must not be sacrificed. A tool that can optimize the trade-off between automation and flexibility to simultaneously filter and qualitatively integrate data is needed to prioritize candidate genes and generate composite networks from heterogeneous data sources.

Results

We developed the java application, EnRICH (

    E
xtractio
    n
and
    R
anking using
    I
ntegration and
    C
riteria
    H
euristics), in order to alleviate this need. Here we present a case study in which we used EnRICH to integrate and filter multiple candidate gene lists in order to identify potential retinal disease genes. As a result of this procedure, a candidate pool of several hundred genes was narrowed down to five candidate genes, of which four are confirmed retinal disease genes and one is associated with a retinal disease state.

Conclusions

We developed a platform-independent tool that is able to qualitatively integrate multiple heterogeneous datasets and use different selection criteria to filter each of them, provided the datasets are tables that have distinct identifiers (required) and attributes (optional). With the flexibility to specify data sources and filtering criteria, EnRICH automatically prioritizes candidate genes or gene relationships for biologists based on their specific requirements. Here, we also demonstrate that this tool can be effectively and easily used to apply highly specific user-defined criteria and can efficiently identify high quality candidate genes from relatively sparse datasets.

【 授权许可】

   
2013 Zhang et al.; licensee BioMed Central Ltd.

【 预 览 】
附件列表
Files Size Format View
20150329023128233.pdf 2662KB PDF download
Figure 3. 59KB Image download
Figure 2. 53KB Image download
Figure 1. 99KB Image download
【 图 表 】

Figure 1.

Figure 2.

Figure 3.

【 参考文献 】
  • [1]Zheng S, Tansey WP, Hiebert SW, Zhao Z: Integrative network analysis identifies key genes and pathways in the progression of hepatitis C virus induced hepatocellular carcinoma. BMC Med Genomics 2011, 4:62. BioMed Central Full Text
  • [2]Aragues R, Sander C, Oliva B: Predicting cancer involvement of genes from heterogeneous data. BMC Bioinforma 2008, 9:172. BioMed Central Full Text
  • [3]Kao CF, Fang YS, Zhao Z, Kuo PH: Prioritization and evaluation of depression candidate genes by combining multidimensional data resources. PLoS One 2011, 6(4):e18696.
  • [4]Bare JC, Koide T, Reiss DJ, Tenenbaum D, Baliga NS: Integration and visualization of systems biology data in context of the genome. BMC Bioinforma 2010, 11:382. BioMed Central Full Text
  • [5]Tranchevent LC, Capdevila FB, Nitsch D, De Moor B, De Causmaecker P, Moreau Y: A guide to web tools to prioritize candidate genes. Brief Bioinform 2010, 12(1):22-32.
  • [6]Chen J, Bardes EE, Aronow BJ, Jegga AG: ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res 2009, 37(Web Server issue):W305-311.
  • [7]Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS: SUSPECTS: enabling fast and effective prioritization of positional candidates. Bioinformatics 2006, 22(6):773-774.
  • [8]Fontaine JF, Priller F, Barbosa-Silva A, Andrade-Navarro MA: Genie: literature-based gene prioritization at multi genomic scale. Nucleic Acids Res 2011, 39(Web Server issue):W455-461.
  • [9]Nitsch D, Tranchevent LC, Goncalves JP, Vogt JK, Madeira SC, Moreau Y: PINTA: a web server for network-based gene prioritization from expression data. Nucleic Acids Res 2011, 39(Web Server issue):W334-338.
  • [10]Tranchevent LC, Barriot R, Yu S, Van Vooren S, Van Loo P, Coessens B, De Moor B, Aerts S, Moreau Y: ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res 2008, 36(Web Server issue):W377-384.
  • [11]Doncheva NT, Kacprowski T, Albrecht M: Recent approaches to the prioritization of candidate disease genes. Wiley Interdiscip Rev Syst Biol Med 2012, 4(5):429-442.
  • [12]Killcoyne S, Carter GW, Smith J, Boyle J: Cytoscape: a community-based framework for network modeling. Methods Mol Biol 2009, 563:219-239.
  • [13]Singhal M, Domico K: CABIN: collective analysis of biological interaction networks. Comput Biol Chem 2007, 31(3):222-225.
  • [14]Reimand J, Tooming L, Peterson H, Adler P, Vilo J: GraphWeb: mining heterogeneous biological networks for gene modules with functional significance. Nucleic Acids Res 2008, 36(Web Server issue):W452-459.
  • [15]Mostafavi S, Ray D, Warde-Farley D, Grouios C, Morris Q: GeneMANIA: a real-time multiple association network integration algorithm for predicting gene function. Genome Biol 2008, 9(Suppl 1):S4. BioMed Central Full Text
  • [16]Kohl M, Wiese S, Warscheid B: Cytoscape: software for visualization and analysis of biological networks. Methods Mol Biol 2011, 696:291-303.
  • [17]Akimoto M, Cheng H, Zhu D, Brzezinski JA, Khanna R, Filippova E, Oh EC, Jing Y, Linares JL, Brooks M, et al.: Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci USA 2006, 103(10):3890-3895.
  • [18]Dorrell MI, Aguilar E, Weber C, Friedlander M: Global gene expression analysis of the developing postnatal mouse retina. Invest Ophthalmol Vis Sci 2004, 45(3):1009-1019.
  • [19]Liu J, Wang J, Huang Q, Higdon J, Magdaleno S, Curran T, Zuo J: Gene expression profiles of mouse retinas during the second and third postnatal weeks. Brain Res 2006, 1098(1):113-125.
  • [20]Trimarchi JM, Stadler MB, Roska B, Billings N, Sun B, Bartch B, Cepko CL: Molecular heterogeneity of developing retinal ganglion and amacrine cells revealed through single cell gene expression profiling. J Comp Neurol 2007, 502(6):1047-1065.
  • [21]Feng Y, Wang Y, Li L, Wu L, Hoffmann S, Gretz N, Hammes HP: Gene expression profiling of vasoregression in the retina--involvement of microglial cells. PLoS One 2011, 6(2):e16865.
  • [22]Leung YF, Dowling JE: Gene expression profiling of zebrafish embryonic retina. Zebrafish 2005, 2(4):269-283.
  • [23]Kamphuis W, Dijk F, van Soest S, Bergen AA: Global gene expression profiling of ischemic preconditioning in the rat retina. Mol Vis 2007, 13:1020-1030.
  • [24]Rehemtulla A, Warwar R, Kumar R, Ji X, Zack DJ, Swaroop A: The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression. Proc Natl Acad Sci USA 1996, 93(1):191-195.
  • [25]Mears AJ, Kondo M, Swain PK, Takada Y, Bush RA, Saunders TL, Sieving PA, Swaroop A: Nrl is required for rod photoreceptor development. Nat Genet 2001, 29(4):447-452.
  • [26]Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A: In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet 2006, 15(17):2588-2602.
  • [27]Oh EC, Cheng H, Hao H, Jia L, Khan NW, Swaroop A: Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res 2008, 1236:16-29.
  • [28]Hood DC, Cideciyan AV, Roman AJ, Jacobson SG: Enhanced S cone syndrome: evidence for an abnormally large number of S cones. Vision Res 1995, 35(10):1473-1481.
  • [29]Daniele LL, Lillo C, Lyubarsky AL, Nikonov SS, Philp N, Mears AJ, Swaroop A, Williams DS, Pugh EN Jr: Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse. Invest Ophthalmol Vis Sci 2005, 46(6):2156-2167.
  • [30]Zhang X, Serb JM, Greenlee MH: Mouse retinal development: a dark horse model for systems biology research. Bioinform Biol Insights 2011, 5:99-113.
  • [31]Cideciyan AV, Hood DC, Huang Y, Banin E, Li ZY, Stone EM, Milam AH, Jacobson SG: Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci USA 1998, 95(12):7103-7108.
  • [32]Iakhine R, Chorna-Ornan I, Zars T, Elia N, Cheng Y, Selinger Z, Minke B, Hyde DR: Novel dominant rhodopsin mutation triggers two mechanisms of retinal degeneration and photoreceptor desensitization. J Neurosci 2004, 24(10):2516-2526.
  • [33]Pennesi ME, Nishikawa S, Matthes MT, Yasumura D, LaVail MM: The relationship of photoreceptor degeneration to retinal vascular development and loss in mutant rhodopsin transgenic and RCS rats. Exp Eye Res 2008, 87(6):561-570.
  • [34]Chen J, Rattner A, Nathans J: The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci 2005, 25(1):118-129.
  • [35]Peng GH, Ahmad O, Ahmad F, Liu J, Chen S: The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Hum Mol Genet 2005, 14(6):747-764.
  • [36]Corbo JC, Cepko CL: A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. PLoS Genet 2005, 1(2):e11.
  • [37]Tosi J, Davis RJ, Wang NK, Naumann M, Lin CS, Tsang SH: shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosa. J Cell Mol Med 2011, 15(8):1778-1787.
  • [38]Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH: Genotype-phenotype correlation of mouse pde6b mutations. Invest Ophthalmol Vis Sci 2005, 46(9):3443-3450.
  • [39]Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Danciger M, Farber DB: Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation. Br J Ophthalmol 2007, 91(5):699-701.
  • [40]Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, et al.: Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat 2007, 28(3):243-254.
  • [41]Mylvaganam GH, McGee TL, Berson EL, Dryja TP: A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. Mol Vis 2006, 12:1496-1498.
  • [42]Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR: Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology 2005, 112(8):1442-1447.
  • [43]Buch PK, Mihelec M, Cottrill P, Wilkie SE, Pearson RA, Duran Y, West EL, Michaelides M, Ali RR, Hunt DM: Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. PLoS One 2011, 6(3):e18089.
  • [44]Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jagle H, Kohl S, Wissinger B, Koch KW: Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat 2009, 30(8):E782-796.
  • [45]Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, Hu J, Baird J, Baehr W, Creel DJ, Zhang K: Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis 2005, 11:143-151.
  • [46]Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA 1995, 92(22):10177-10181.
  • [47]Brucklacher RM, Patel KM, VanGuilder HD, Bixler GV, Barber AJ, Antonetti DA, Lin CM, LaNoue KF, Gardner TW, Bronson SK, et al.: Whole genome assessment of the retinal response to diabetes reveals a progressive neurovascular inflammatory response. BMC Med Genomics 2008, 1:26. BioMed Central Full Text
  文献评价指标  
  下载次数:34次 浏览次数:14次