Zoekresultaten - Matthew E. Hurles

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  1. 1
    The population genetics of structural variation

    The population genetics of structural variation door Donald F. Conrad, Matthew E. Hurles

    Gepubliceerd in 2007
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  2. 2
    The past within us

    The past within us door Colin Renfrew, Peter Forster, Matthew E. Hurles

    Gepubliceerd in 2000
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  3. 3
    The functional impact of structural variation in humans

    The functional impact of structural variation in humans door Matthew E. Hurles, Emmanouil T. Dermitzakis, Chris Tyler‐Smith

    Gepubliceerd in 2008
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  4. 4
    A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination

    A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination door Sarah Lindsay, Mehrdad Khajavi, James R. Lupski, Matthew E. Hurles

    Gepubliceerd in 2006
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  5. 5
    Characterising and Predicting Haploinsufficiency in the Human Genome

    Characterising and Predicting Haploinsufficiency in the Human Genome door Ni Huang, Insuk Lee, Edward M. Marcotte, Matthew E. Hurles

    Gepubliceerd in 2010
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  6. 6
    Copy Number Variation in Human Health, Disease, and Evolution

    Copy Number Variation in Human Health, Disease, and Evolution door Feng Zhang, Wenli Gu, Matthew E. Hurles, James R. Lupski

    Gepubliceerd in 2009
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  7. 7
    The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline

    The genome-wide effects of ionizing radiation on mutation induction in the mammalian germline door Adeolu B. Adewoye, Sarah Lindsay, Yuri E. Dubrova, Matthew E. Hurles

    Gepubliceerd in 2015
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  8. 8
    Similarities and differences in patterns of germline mutation between mice and humans

    Similarities and differences in patterns of germline mutation between mice and humans door Sarah Lindsay, Raheleh Rahbari, Joanna Kaplanis, Thomas Keane, Matthew E. Hurles

    Gepubliceerd in 2019
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  9. 9
    Quantifying single nucleotide variant detection sensitivity in exome sequencing

    Quantifying single nucleotide variant detection sensitivity in exome sequencing door Alison Meynert, Louise S. Bicknell, Matthew E. Hurles, Andrew P. Jackson, Martin S. Taylor

    Gepubliceerd in 2013
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  10. 10
    VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations

    VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations door James Stephenson, Roman A. Laskowski, Andrew Nightingale, Matthew E. Hurles, Janet M. Thornton

    Gepubliceerd in 2019
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  11. 11
    Prenatal exome sequencing for fetuses with structural abnormalities: the next step

    Prenatal exome sequencing for fetuses with structural abnormalities: the next step door Sarah Hillman, D. Willams, Keren Carss, Dominic McMullan, Matthew E. Hurles, Mark D. Kilby

    Gepubliceerd in 2014
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  12. 12
    A robust statistical method for case-control association testing with copy number variation

    A robust statistical method for case-control association testing with copy number variation door C. Barnes, Vincent Plagnol, Tomas Fitzgerald, Richard Redon, Jonathan Marchini, David Clayton, Matthew E. Hurles

    Gepubliceerd in 2008
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  13. 13
    DeNovoGear: de novo indel and point mutation discovery and phasing

    DeNovoGear: de novo indel and point mutation discovery and phasing door Avinash Ramu, Michiel J. Noordam, Rachel S. Schwartz, Arthur Wüster, Matthew E. Hurles, Reed A. Cartwright, Donald F. Conrad

    Gepubliceerd in 2013
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  14. 14
    Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

    Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research door Anna Middleton, Katherine I. Morley, Eugene Bragin, Helen V. Firth, Matthew E. Hurles, Caroline F. Wright, Michael Parker

    Gepubliceerd in 2015
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  15. 15
    Mitochondrial DNA and the origins of the domestic horse

    Mitochondrial DNA and the origins of the domestic horse door Thomas Jansen, Peter Forster, Michael A. Levine, Hardy Oelke, Matthew E. Hurles, Colin Renfrew, Jürgen Weber, Klaus Olek

    Gepubliceerd in 2002
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  16. 16
    Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

    Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives door E Quinlan-Jones, Mark D. Kilby, Sheila Greenfield, Michael Parker, Dominic McMullan, Matthew E. Hurles, Sarah Hillman

    Gepubliceerd in 2016
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  17. 17
    Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

    Germline rates of de novo meiotic deletions and duplications causing several genomic disorders door Daniel J. Turner, Marcos Miretti, Diana Rajan, Heike Fiegler, Nigel P. Carter, Martyn Blayney, Stephan Beck, Matthew E. Hurles

    Gepubliceerd in 2007
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  18. 18
    Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

    Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia door Detelina Grozeva, Donald F. Conrad, C. Barnes, Matthew E. Hurles, Michael J. Owen, Michael O’Donovan, Nick Craddock, George Kirov

    Gepubliceerd in 2011
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  19. 19
    Challenges and standards in integrating surveys of structural variation

    Challenges and standards in integrating surveys of structural variation door Stephen W. Scherer, Charles Lee, Ewan Birney, David Altshuler, Evan E. Eichler, Nigel P. Carter, Matthew E. Hurles, Lars Feuk

    Gepubliceerd in 2007
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  20. 20
    Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

    Mutation spectrum revealed by breakpoint sequencing of human germline CNVs door Donald F. Conrad, Christine Bird, Benjamin P. Blackburne, Sarah Lindsay, Lira Mamanova, Charles Lee, Daniel J. Turner, Matthew E. Hurles

    Gepubliceerd in 2010
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