Stephen B Montgomery

Summary

Affiliation: University of Geneva
Country: Switzerland

Publications

  1. pmc Transcriptome genetics using second generation sequencing in a Caucasian population
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland
    Nature 464:773-7. 2010
  2. 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
  3. pmc Rare and common regulatory variation in population-scale sequenced human genomes
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    PLoS Genet 7:e1002144. 2011
  4. doi Annotating the regulatory genome
    Stephen B Montgomery
    Wellcome Trust Sanger Institute, Cambridge, UK
    Methods Mol Biol 674:313-49. 2010
  5. doi From expression QTLs to personalized transcriptomics
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland
    Nat Rev Genet 12:277-82. 2011
  6. pmc Sex-biased genetic effects on gene regulation in humans
    Antigone S Dimas
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland
    Genome Res 22:2368-75. 2012
  7. pmc Epistatic selection between coding and regulatory variation in human evolution and disease
    Tuuli Lappalainen
    Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland
    Am J Hum Genet 89:459-63. 2011
  8. 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
  9. 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
  10. 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

Detail Information

Publications19

  1. pmc Transcriptome genetics using second generation sequencing in a Caucasian population
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, 1211 Switzerland
    Nature 464:773-7. 2010
    ..This analysis shows that high throughput sequencing technologies reveal new properties of genetic effects on the transcriptome and allow the exploration of genetic effects in cellular processes...
  2. 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...
  3. pmc Rare and common regulatory variation in population-scale sequenced human genomes
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    PLoS Genet 7:e1002144. 2011
    ..Our results demonstrate that integration of genomic and RNA sequencing analyses allows for the joint assessment of genome sequence and genome function...
  4. doi Annotating the regulatory genome
    Stephen B Montgomery
    Wellcome Trust Sanger Institute, Cambridge, UK
    Methods Mol Biol 674:313-49. 2010
    ..We further highlight the type of information and curation process for describing regulatory elements within the ORegAnno database ( www.oreganno.org ) and how the general standards for such information are changing...
  5. doi From expression QTLs to personalized transcriptomics
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland
    Nat Rev Genet 12:277-82. 2011
    ..Furthermore, these advances are helping to establish links between cellular effects and organismal traits...
  6. pmc Sex-biased genetic effects on gene regulation in humans
    Antigone S Dimas
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland
    Genome Res 22:2368-75. 2012
    ..This study illustrates that sex provides important context that can modify the effects of functional genetic variants...
  7. pmc Epistatic selection between coding and regulatory variation in human evolution and disease
    Tuuli Lappalainen
    Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland
    Am J Hum Genet 89:459-63. 2011
    ....
  8. 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...
  9. 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...
  10. 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
    ....
  11. pmc Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts
    Christelle Borel
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland
    Genome Res 21:68-73. 2011
    ..Furthermore, we detected one genomic locus (rs1522653) that influences the expression levels of five miRNAs, thus unraveling a novel mechanism for coregulation of miRNA expression...
  12. 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
    ....
  13. pmc Transcriptome and genome sequencing uncovers functional variation in humans
    Tuuli Lappalainen
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland
    Nature 501:506-11. 2013
    ..Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome...
  14. pmc Passive and active DNA methylation and the interplay with genetic variation in gene regulation
    Maria Gutierrez-Arcelus
    Department of Medical Genetics and Development, University of Geneva Medical School, Geneva, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva Medical School, Geneva, Switzerland Swiss Institute of Bioinformatics, Geneva, Switzerland
    elife 2:e00523. 2013
    ..DOI:http://dx.doi.org/10.7554/eLife.00523.001...
  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. ncbi Cis and trans effects of human genomic variants on gene expression
    Julien Bryois
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland Institute of Genetics and Genomics in Geneva iGE3, Geneva, Switzerland Swiss Institute of Bioinformatics SIB, Geneva, Switzerland
    PLoS Genet 10:e1004461. 2014
    ..This analysis shows that a large sample size allows the discovery of secondary effects of human variations on gene expression that can be used to construct short directed gene regulatory networks. ..
  17. 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...
  18. ncbi The resolution of the genetics of gene expression
    Stephen B Montgomery
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva CH 1211, Switzerland
    Hum Mol Genet 18:R211-5. 2009
    ..Such advances are leading to a future where rich cellular phenotypes will facilitate understanding of the transmission of genetic effect from the gene to organism...
  19. pmc DNA methylation profiles of human active and inactive X chromosomes
    Andrew J Sharp
    Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland
    Genome Res 21:1592-600. 2011
    ..Our study provides a detailed analysis of the epigenetic profile of active and inactive X chromosomes...