Výsledky vyhledávání - Andy Rimmer

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  1. 1
    Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

    Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications Autor Andy Rimmer, Hang Phan, Iain Mathieson, Zamin Iqbal, Stephen R.F. Twigg, Andrew O.M. Wilkie, Gil McVean, Gerton Lunter

    Vydáno 2014
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    Artigo
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  2. 2
    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies Autor Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays

    Vydáno 2011
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  3. 3
    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis Autor H. Christian Martin, Grace Kim, A. T. Pagnamenta, Yoshiko Murakami, Gemma L. Carvill, Esther Meyer, Richard R. Copley, Andy Rimmer, Giulia Barcia, Matthew R. Fleming, Jack Kronengold, Milton R. Brown, K Hudspith, John Broxholme, Alexander Kanapin, Jean‐Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, D. R. Bentley, Gil McVean, Sinéad B. Heavin, Zenobia Zaiwalla, Tony McShane, Heather C. Mefford, D. Shears, Helen Stewart, Manju A. Kurian, Ingrid E. Scheffer, Edward Blair, Peter Donnelly, Leonard K. Kaczmarek, Jenny C. Taylor

    Vydáno 2014
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  4. 4
    Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

    Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden Autor Jean‐Baptiste Cazier, Srinivasa R. Rao, Chelsea McLean, Alexandra K. Walker, Ben Wright, E Jaeger, Christiana Kartsonaki, Luke Marsden, Christopher Yau, Carme Camps, Pamela J. Kaisaki, Christopher Allan, Moustafa Attar, John Bell, David L. Bentley, John Broxholme, David Buck, Jean‐Baptiste Cazier, Richard R. Copley, Richard J. Cornall, Peter Donnelly, Simon Fiddy, Angie Green, Lorna Gregory, Russell Grocock, Edouard Hatton, Chris Holmes, Linda Hughes, Peter Humburg, Sean Humphray, Alexander Kanapin, Zoya Kingsbury, Julian C. Knight, Sarah Lamble, Stefano Lise, Lorne Lonie, Gerton Lunter, Hilary C. Martin, Lisa Murray, Davis J. McCarthy, Gil McVean, Alistair T. Pagnamenta, Paolo Piazza, Guadelupe Polanco, Peter J. Ratcliffe, Andy Rimmer, Natasha Sahgal, Jenny C. Taylor, Ian Tomlinson, Amy Trebes, Andrew O.M. Wilkie, Ben Wright, Christopher Yau, Jenny C. Taylor, James W.F. Catto, Ian Tomlinson, Anne E. Kiltie, Freddie C. Hamdy

    Vydáno 2014
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  5. 5
    Erythrocytosis associated with a novel missense mutation in the BPGM gene

    Erythrocytosis associated with a novel missense mutation in the BPGM gene Autor Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, S.E. Haggan, Celeste Bento, Holger Cario, Melanie J. Percy, Peter J. Ratcliffe, Peter A. Robbins, M. F. McMullin, Peter Donnelly, John I. Bell, D. R. Bentley, Gil McVean, Peter J. Ratcliffe, Jenny C. Taylor, Andrew O.M. Wilkie, P. Donelly, John Broxholme, David Buck, Jean‐Baptiste Cazier, Richard J. Cornall, Lynn Gregory, Julian C. Knight, Gerton Lunter, Gil McVean, Ian Tomlinson, Andrew O.M. Wilkie, David Buck, Christopher Allan, Moustafa Attar, Andrew Green, Lynn Gregory, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair T. Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Gil McVean, Peter Donnelly, Jean‐Baptiste Cazier, John Broxholme, Richard R. Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, L. Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Gerton Lunter, Hilary C. Martin, Lisa Murray, Davis J. McCarthy, Andy Rimmer, Natasha Sahgal, Bruce Wright, Christopher Yau

    Vydáno 2014
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    Carta
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  6. 6
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Autor Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A.R. Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, P Bignell, Edward Blair, Veronica J. Buckle, Katherine R. Bull, Ondřej Cais, Holger Cario, Helen Chapel, Richard R. Copley, Richard J. Cornall, Jude Craft, Karin Dahan, Emma E. Davenport, Calliope A. Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D. Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V. Gruszczyk, Robert Hastings, Edouard Hatton, Douglas R. Higgs, Adrian V. S. Hill, Chris Holmes, Malcolm F. Howard, Linda Hughes, Peter Humburg, David H. Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C. Knight, Jonathan Krohn, Sarah Lamble, Craig B. Langman, Lorne Lonie, Joshua Luck, Davis J. McCarthy, Simon J. McGowan, Mary Frances McMullin, Kerry A. Miller, Lisa Murray, Andrea H. Németh, M. Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Oturai, Alistair T. Pagnamenta, Smita Y. Patel, Melanie J. Percy, Nayia Petousi, Paolo Piazza, Siân E. Piret, Guadalupe Polanco‐Echeverry, Niko Popitsch, Fiona Powrie, Christopher W. Pugh, Lynn Quek, Peter A. Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A. van Schouwenburg, Anna Schuh, Earl D. Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V. Thakker, Ian Tomlinson, Amy Trebes, Stephen R.F. Twigg, Holm H. Uhlig, Paresh Vyas, Tim J. Vyse, Steven A. Wall, Hugh Watkins, Michael P. Whyte, Lorna Witty

    Vydáno 2015
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  7. 7
    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

    Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel Autor Olivier Delaneau, Jonathan Marchini, Gil McVean, Peter Donnelly, Gerton Lunter, Jonathan Marchini, Simon Myers, Anjali Gupta Hinch, Zamin Iqbal, Iain Mathieson, Andy Rimmer, Dionysia K. Xifara, Angeliki Kerasidou, Claire Churchhouse, Olivier Delaneau, David Altshuler, Stacey Gabriel, Eric S. Lander, Namrata Gupta, Mark J. Daly, Mark A. DePristo, Eric Banks, Gaurav Bhatia, Mauricio O. Carneiro, Guillermo del Angel, Giulio Genovese, Robert E. Handsaker, Chris Hart, Steven A. McCarroll, James Nemesh, Ryan Poplin, S. F. Schaffner, Khalid Shakir, Pardis C. Sabeti, Sharon R. Grossman, Shervin Tabrizi, Ridhi Tariya, Heng Li, David Reich, Richard Durbin, Matthew E. Hurles, Senduran Balasubramaniam, John H. Burton, Petr Danecek, Thomas Keane, Anja Kolb-Kokocinski, Shane McCarthy, James Stalker, Michael A. Quail, Qasim Ayub, Yuan Chen, Alison J. Coffey, Vincenza Colonna, Ni Huang, Luke Jostins, Aylwyn Scally, Klaudia Walter, Yali Xue, Goo Jun, Ben Blackburne, Sarah Lindsay, Zemin Ning, Adam Frankish, Jennifer Harrow, Chris Tyler‐Smith, Gonalo R. Abecasis, Hyun Min Kang, Paul Anderson, Tom Blackwell, Fabio Busonero, Christian Fuchsberger, Goo Jun, Andrea Maschio, Eleonora Porcu, Carlo Sidore, Adrian Tan, Mary Kate Trost, David Bentley, Russell Grocock, Sean Humphray, Terena James, Zoya Kingsbury, Markus Bauer, R. Keira Cheetham, Tony Cox, Michael A. Eberle, Lisa Murray, Richard J. Shaw, Aravinda Chakravarti, Andrew G. Clark, Alon Keinan, Juan L. Rodriguez‐Flores, Francisco M. De La Vega, Jeremiah D. Degenhardt, Evan E. Eichler, Paul Flicek, Laura Clarke, Rasko Leinonen, Richard E. Smith, Xiangqun Zheng-Bradley

    Vydáno 2014
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