Searching journal content for articles similar to Boyle et al. 22 (9): 1790.

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  1. Research: Maps of open chromatin highlight cell type–restricted patterns of regulatory sequence variation at hematological trait loci
    • Dirk S. Paul,
    • Cornelis A. Albers,
    • Augusto Rendon,
    • Katrin Voss,
    • Jonathan Stephens,
    • HaemGen Consortium,
    • Pim van der Harst,
    • John C. Chambers,
    • Nicole Soranzo,
    • Willem H. Ouwehand,
    • and Panos Deloukas
    Genome Res. July 2013 23: 1130-1141; Published in Advance April 9, 2013, doi:10.1101/gr.155127.113
    ...using the Ingenuity Knowledge Base. We detected a modest enrichment of genes involved in Table 1. Summary of the functional evidence obtained for platelet candidate functional SNPs through FAIRE, ChIP, and EMSA experiments, as well as annotation from RegulomeDB Candidate functional SNP NDR cell type...
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  2. Method: Identification of the shortest species-specific oligonucleotide sequences
    • Ioannis Mouratidis,
    • Maxwell A. Konnaris,
    • Nikol Chantzi,
    • Candace S.Y. Chan,
    • Michail Patsakis,
    • Kimonas Provatas,
    • Austin Montgomery,
    • Fotis A. Baltoumas,
    • Congzhou M. Sha,
    • Manvita Mareboina,
    • Georgios A. Pavlopoulos,
    • Dionysios V. Chartoumpekis,
    • and Ilias Georgakopoulos-Soares
    Genome Res. February 2025 35: 279-295; Published in Advance January 2, 2025, doi:10.1101/gr.280070.124
    ...-Soares1 1Institute for Personalized Medicine, Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA; 2Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, Pennsylvania 16802, USA; 3...
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  3. Research: Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals
    • Alexis Battle,
    • Sara Mostafavi,
    • Xiaowei Zhu,
    • James B. Potash,
    • Myrna M. Weissman,
    • Courtney McCormick,
    • Christian D. Haudenschild,
    • Kenneth B. Beckman,
    • Jianxin Shi,
    • Rui Mei,
    • Alexander E. Urban,
    • Stephen B. Montgomery,
    • Douglas F. Levinson,
    • and Daphne Koller
    Genome Res. January 2014 24: 14-24; Published in Advance October 3, 2013, doi:10.1101/gr.155192.113
    ...QTLs identified here has provided amore complete characterization of the landscape of human regulatory variation than previously possible. As we seek to describe the impact of both common and rare genetic variation, the combined understanding gained from ongoing genomic annotation efforts, eQTL studies...
  4. Perspective: What does our genome encode?
    • John A. Stamatoyannopoulos
    Genome Res. September 2012 22: 1602-1611; doi:10.1101/gr.146506.112
    .... Almost exactly 10 years ago, a ‘‘Workshop on the Comprehensive Extraction of Biological Information from Genomic Sequence’’ endorsed the formation of a public consortium to undertake comprehensive annotation of all functional elements encoded in the human , a logical encore to the production...
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  5. Perspective: Toward mapping the biology of the genome
    • Stephen Chanock
    Genome Res. September 2012 22: 1612-1615; doi:10.1101/gr.144980.112
    ...M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, et al. 2012. Annotation of functional variation in personal s using RegulomeDB. Genome Res (this issue). doi: 10.1101/gr.137323.112. Carvajal-Carmona LG, Cazier JB, Jones AM,Howarth K, Broderick P, Pittman A, Dobbins S...
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  6. Method: Linking disease associations with regulatory information in the human genome
    • Marc A. Schaub,
    • Alan P. Boyle,
    • Anshul Kundaje,
    • Serafim Batzoglou,
    • and Michael Snyder
    Genome Res. September 2012 22: 1748-1759; doi:10.1101/gr.136127.111
    ...). We use the function information generated by the UCSC Genome Browser for each SNP in dbSNP 132 (Sayers et al. 2012). We used the November 7, 2011 version of RegulomeDB (Boyle et al. 2012) in order to annotate SNPswith regulatory information and to obtain a list of eQTL. The RegulomeDB server...
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  7. Commentary: Decoding the human genome
    • Kelly A. Frazer
    Genome Res. September 2012 22: 1599-1601; doi:10.1101/gr.146175.112
    .... 2012. Annotation of functional variation in personal s using RegulomeDB. Genome Res (this issue). doi: 10.1101/gr.137323.112. Cheng C, Alexander R, Min R, Leng J, Yip KY, Rozowsky J, Yan K-K, Dong X, Djebali S, Ruan Y, et al. 2012. Understanding transcriptional regulation by integrative analysis...
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  8. Research: Shroom3 contributes to the maintenance of the glomerular filtration barrier integrity
    • Nan Cher Yeo,
    • Caitlin C. O’Meara,
    • Jason A. Bonomo,
    • Kerry N. Veth,
    • Ritu Tomar,
    • Michael J. Flister,
    • Iain A. Drummond,
    • Donald W. Bowden,
    • Barry I. Freedman,
    • Jozef Lazar,
    • Brian A. Link,
    • and Howard J. Jacob
    Genome Res. January 2015 25: 57-65; Published in Advance October 1, 2014, doi:10.1101/gr.182881.114
    ...factor H gene associations with end-stage kidney disease in African Americans. Nephrol Dial Transplant 29: 1409–1414. Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, et al. 2012. Annotation of functional variation in personal s using RegulomeDB...
  9. Perspective: Genomic approaches for understanding the genetics of complex disease
    • William L. Lowe, Jr. and
    • Timothy E. Reddy
    Genome Res. October 2015 25: 1432-1441; doi:10.1101/gr.190603.115
    ..., Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, et al. 2012. Annotation of functional variation in personal s using RegulomeDB. Genome Res 22: 1790–1797. BrayNJ, Buckland PR, OwenMJ, O’DonovanMC. 2003.Cis-acting variation in the expression of a high proportion of genes in human brain. Hum...
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  10. Research: Identifying multiple causative genes at a single GWAS locus
    • Michael J. Flister,
    • Shirng-Wern Tsaih,
    • Caitlin C. O'Meara,
    • Bradley Endres,
    • Matthew J. Hoffman,
    • Aron M. Geurts,
    • Melinda R. Dwinell,
    • Jozef Lazar,
    • Howard J. Jacob,
    • and Carol Moreno
    Genome Res. December 2013 23: 1996-2002; Published in Advance September 4, 2013, doi:10.1101/gr.160283.113
    ...1,092 human s. Nature 491: 56–65. Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, et al. 2012. Annotation of functional variation in personal s using RegulomeDB. Genome Res 22: 1790–1797. Chatterjee N, Wheeler B, Sampson J, Hartge P, Chanock SJ...
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