Emmanouil T Dermitzakis

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc Modifier effects between regulatory and protein-coding variation
    Antigone S Dimas
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
    PLoS Genet 4:e1000244. 2008
  2. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
  3. pmc Fast-evolving noncoding sequences in the human genome
    Christine P Bird
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
    Genome Biol 8:R118. 2007
  4. pmc Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
    John C Marioni
    Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK
    Genome Biol 8:R228. 2007
  5. ncbi request reprint Conserved non-genic sequences - an unexpected feature of mammalian genomes
    Emmanouil T Dermitzakis
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Nat Rev Genet 6:151-7. 2005
  6. ncbi request reprint Genetic variation in human gene expression
    Emmanouil T Dermitzakis
    Division of Informatics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Mamm Genome 17:503-8. 2006
  7. pmc Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
    Alexandra C Nica
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
    PLoS Genet 6:e1000895. 2010
  8. pmc Population genomics of human gene expression
    Barbara E Stranger
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nat Genet 39:1217-24. 2007
  9. pmc Mapping cis- and trans-regulatory effects across multiple tissues in twins
    Elin Grundberg
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 44:1084-9. 2012
  10. pmc Genome-wide associations of gene expression variation in humans
    Barbara E Stranger
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    PLoS Genet 1:e78. 2005

Research Grants

Collaborators

Detail Information

Publications33

  1. pmc Modifier effects between regulatory and protein-coding variation
    Antigone S Dimas
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
    PLoS Genet 4:e1000244. 2008
    ....
  2. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
    ..However, such deeply conserved elements account for <1% of the conserved non-coding sequences in the human genome, which are predominantly mammalian...
  3. pmc Fast-evolving noncoding sequences in the human genome
    Christine P Bird
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK
    Genome Biol 8:R118. 2007
    ..These conserved noncoding (CNC) sequences may well harbor critical regulatory variants that have driven recent human evolution...
  4. pmc Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
    John C Marioni
    Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK
    Genome Biol 8:R228. 2007
    ..However, methods for analyzing the complex data produced and identifying regions of CNV are still being refined...
  5. ncbi request reprint Conserved non-genic sequences - an unexpected feature of mammalian genomes
    Emmanouil T Dermitzakis
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Nat Rev Genet 6:151-7. 2005
    ..It is likely that genomic variation in conserved non-genic sequences is associated with phenotypic variability and human disorders. So how might their function and contribution to human disorders be examined?..
  6. ncbi request reprint Genetic variation in human gene expression
    Emmanouil T Dermitzakis
    Division of Informatics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Mamm Genome 17:503-8. 2006
    ..In this review we discuss issues relating to the biological information one obtains from such studies and the biological significance and use of signals from mapping of gene expression variation...
  7. pmc Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations
    Alexandra C Nica
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
    PLoS Genet 6:e1000895. 2010
    ..We conclude that integrating cellular phenotype associations with organismal complex traits will facilitate the biological interpretation of the genetic effects on these traits...
  8. pmc Population genomics of human gene expression
    Barbara E Stranger
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nat Genet 39:1217-24. 2007
    ..We also explore several methodologies that improve the current state of analysis of gene expression variation...
  9. pmc Mapping cis- and trans-regulatory effects across multiple tissues in twins
    Elin Grundberg
    Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 44:1084-9. 2012
    ....
  10. pmc Genome-wide associations of gene expression variation in humans
    Barbara E Stranger
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    PLoS Genet 1:e78. 2005
    ..In addition, we demonstrate that the HapMap cell lines themselves may serve as a useful resource for quantitative measurements at the cellular level...
  11. pmc Relative impact of nucleotide and copy number variation on gene expression phenotypes
    Barbara E Stranger
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Science 315:848-53. 2007
    ..Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans...
  12. pmc Patterns of cis regulatory variation in diverse human populations
    Barbara E Stranger
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK
    PLoS Genet 8:e1002639. 2012
    ....
  13. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
    ..These methods and public data will support the next phase of human genetic research...
  14. pmc Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies
    Tsun Po Yang
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
    Bioinformatics 26:2474-6. 2010
    ..The database and application can be installed on a standard computer in database mode and, in addition, on a server to share discoveries among affiliations or the broader community over the Internet via web services protocols...
  15. pmc Common regulatory variation impacts gene expression in a cell type-dependent manner
    Antigone S Dimas
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1HH, Cambridge, UK
    Science 325:1246-50. 2009
    ..These data suggest that the complete regulatory variant repertoire can only be uncovered in the context of cell-type specificity...
  16. pmc High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta
    Caroline Daelemans
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1 SA, UK
    BMC Genet 11:25. 2010
    ..Using two allele-specific high-throughput technologies alongside bioinformatics predictions, normal term human placenta was screened to find new imprinted genes and to ascertain the extent of ASE in this tissue...
  17. ncbi request reprint Functional variation and evolution of non-coding DNA
    Christine P Bird
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK
    Curr Opin Genet Dev 16:559-64. 2006
    ..The main issues relate to the discovery, evolutionary analysis and natural variation of non-coding DNA, and the parameters that prevent us from fully understanding the properties of non-coding DNA...
  18. pmc Insights into hominid evolution from the gorilla genome sequence
    Aylwyn Scally
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Nature 483:169-75. 2012
    ..The use of the genome sequence in these and future analyses will promote a deeper understanding of great ape biology and evolution...
  19. pmc The architecture of gene regulatory variation across multiple human tissues: the MuTHER study
    Alexandra C Nica
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    PLoS Genet 7:e1002003. 2011
    ..Our results underline the need to account for the complexity of eQTL tissue-specificity in an effort to assess consequences of such variants for complex traits...
  20. pmc Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
    Verneri Anttila
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK
    Nat Genet 42:869-73. 2010
    ..96 × 10⁻⁵, permuted threshold for genome-wide significance 7.7 × 10⁻⁵. To our knowledge, our data establish rs1835740 as the first genetic risk factor for migraine...
  21. pmc Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling
    Edwin Chen
    Cambridge Institute for Medical Research and Department of Haematology, University of Cambridge, Hills Road, Cambridge, CB2 0XY, UK
    Cancer Cell 18:524-35. 2010
    ..Our results illustrate the power of clonal analysis, indicate that the consequences of JAK2V617F reflect a balance between STAT5 and STAT1 activation and are relevant for other neoplasms associated with signaling pathway mutations...
  22. pmc Large-scale population study of human cell lines indicates that dosage compensation is virtually complete
    Colette M Johnston
    X Chromosome Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
    PLoS Genet 4:e9. 2008
    ..We suggest that the potential contribution of escape from X chromosome inactivation to phenotypic differences between the sexes is more limited than previously believed...
  23. pmc Genome variation and evolution of the malaria parasite Plasmodium falciparum
    Daniel C Jeffares
    Informatics Division, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA Hinxton, UK
    Nat Genet 39:120-5. 2007
    ..This analysis uncovers the primary evolutionary changes that have occurred since the P. falciparum-P. reichenowi speciation and changes that are occurring within P. falciparum...
  24. pmc The genetics of regulatory variation in the human genome
    Barbara E Stranger
    The Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Hum Genomics 2:126-31. 2005
    ....
  25. pmc A systematic survey of loss-of-function variants in human protein-coding genes
    Daniel G MacArthur
    Wellcome Trust Sanger Institute, Hinxton, UK
    Science 335:823-8. 2012
    ..We describe functional and evolutionary differences between LoF-tolerant and recessive disease genes and a method for using these differences to prioritize candidate genes found in clinical sequencing studies...
  26. pmc Using gene expression to investigate the genetic basis of complex disorders
    Alexandra C Nica
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1HH, UK
    Hum Mol Genet 17:R129-34. 2008
    ..Overall, such efforts will be very helpful in understanding initially regulatory effects on disease and disease etiology in general...
  27. pmc From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation
    Barbara E Stranger
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Hum Genomics 2:383-90. 2006
    ..This paper focuses on how studies of gene expression variation might complement disease studies and provide crucial links between genotype and phenotype...
  28. pmc The functional impact of structural variation in humans
    Matthew E Hurles
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Trends Genet 24:238-45. 2008
    ....
  29. pmc An immune response network associated with blood lipid levels
    Michael Inouye
    Department of Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    PLoS Genet 6:e1001113. 2010
    ....
  30. pmc Extent, causes, and consequences of small RNA expression variation in human adipose tissue
    Leopold Parts
    Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    PLoS Genet 8:e1002704. 2012
    ..This study highlights the similar genetic complexity and shared genetic control of small RNA and mRNA transcripts, and gives a quantitative picture of small RNA expression variation in the human population...
  31. doi request reprint Regulatory variation and evolution: implications for disease
    Emmanouil T Dermitzakis
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1SA Cambridge, United Kingdom
    Adv Genet 61:295-306. 2008
    ..g., disease) are presented in the context of the exploration of noncoding DNA properties. The aim is to take advantage of current and emerging analysis methods for noncoding DNA to elucidate the genetic causes of phenotypic variation...
  32. pmc Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits
    Joshua C Randall
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom
    PLoS Genet 9:e1003500. 2013
    ..The PPARG locus is of specific interest due to its role in diabetes genetics and therapy. Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits...
  33. pmc Variation in genome-wide mutation rates within and between human families
    Donald F Conrad
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:712-4. 2011
    ..These observations suggest considerable variation in mutation rates within and between families...

Research Grants1

  1. Methods for high-resolution analysis of genetic effects on gene expression
    MARK IAN MCCARTHY; Fiscal Year: 2010
    ..It is the understanding of the basic molecular functions in health and disease that will provide the utmost resolution of information for the improvement of human health. ..