D
Dawn Muddyman
Researcher at Wellcome Trust Sanger Institute
Publications - 14
Citations - 1281
Dawn Muddyman is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 8, co-authored 14 publications receiving 1177 citations. Previous affiliations of Dawn Muddyman include University of Cambridge.
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The UK10K project identifies rare variants in health and disease
Klaudia Walter,Josine L. Min,Jie Huang,Lucy Crooks,Yasin Memari,Shane A. McCarthy,John R. B. Perry,ChangJiang Xu,Marta Futema,Daniel Lawson,Valentina Iotchkova,Stephan Schiffels,Audrey E. Hendricks,Petr Danecek,Rui Li,James A B Floyd,Louise V. Wain,Inês Barroso,Steve E. Humphries,Matthew E. Hurles,Eleftheria Zeggini,Jeffrey C. Barrett,Vincent Plagnol,J. Brent Richards,Celia M. T. Greenwood,Nicholas J. Timpson,Richard Durbin,Nicole Soranzo,Senduran Bala,Peter Clapham,Guy Coates,Tony Cox,Allan Daly,Yuanping Du,Sarah Edkins,Peter R. Ellis,Paul Flicek,Xiaosen Guo,Xueqin Guo,Liren Huang,David K. Jackson,Christopher J. Joyce,Thomas Keane,Anja Kolb-Kokocinski,Cordelia Langford,Yingrui Li,Jieqin Liang,Hong Lin,Ryan Liu,John Maslen,Dawn Muddyman,Michael A. Quail,Jim Stalker,Jianping Sun,Jing Tian,Guangbiao Wang,Jun Wang,Yu Wang,Kim Wong,Pingbo Zhang,Ewan Birney,Chris Boustred,Lu Chen,Gail Clement,Massimiliano Cocca,George Davey Smith,Ian N.M. Day,Aaron G. Day-Williams,Thomas A. Down,Ian Dunham,David M. Evans,Tom R. Gaunt,Matthias Geihs,Deborah J. Hart,Bryan Howie,Tim Hubbard,Pirro G. Hysi,Yalda Jamshidi,Konrad J. Karczewski,John P. Kemp,Genevieve Lachance,Monkol Lek,Margarida C. Lopes,Daniel G. MacArthur,Jonathan Marchini,Massimo Mangino,Iain Mathieson,Sarah Metrustry,Alireza Moayyeri,Kate Northstone,Kalliope Panoutsopoulou,Lavinia Paternoster,Lydia Quaye,Susan M. Ring,Graham R. S. Ritchie,Hashem A. Shihab,So-Youn Shin,Kerrin S. Small,María Soler Artigas,Lorraine Southam,Tim D. Spector,Beate St Pourcain,Gabriela L. Surdulescu,Ioanna Tachmazidou,Martin D. Tobin,Ana M. Valdes,Peter M. Visscher,Kirsten J. Ward,Scott Wilson,Jian Yang,Feng Zhang,Hou-Feng Zheng,Richard Anney,Muhammad Ayub,Douglas Blackwood,Patrick Bolton,Gerome Breen,David A. Collier,Nicholas John Craddock,Sarah Curran,David Curtis,Louise Gallagher,Daniel H. Geschwind,Hugh Gurling,Peter Holmans,Irene Lee,Jouko Lönnqvist,Peter McGuffin,Andrew M. McIntosh,Andrew McKechanie,Andrew McQuillin,James Morris,Michael Conlon O'Donovan,Michael John Owen,Aarno Palotie,Jeremy R. Parr,Tiina Paunio,Olli Pietiläinen,Karola Rehnström,Sally I. Sharp,David Skuse,David St Clair,Jaana Suvisaari,James T.R. Walters,Hywel Williams,Elena G. Bochukova,Rebecca Bounds,Anna F. Dominiczak,I. Sadaf Farooqi,Julia M. Keogh,Gaëlle Marenne,Andrew D. Morris,Stephen O'Rahilly,David J. Porteous,Blair H. Smith,Eleanor Wheeler,Saeed Al Turki,Carl A. Anderson,Dinu Antony,PL Beales,Jamie Bentham,Shoumo Bhattacharya,Mattia Calissano,Keren J. Carss,Krishna Chatterjee,Sebahattin Cirak,Catherine Cosgrove,David R. FitzPatrick,A. Reghan Foley,Christopher S. Franklin,Detelina Grozeva,Hannah M. Mitchison,Francesco Muntoni,Alexandros Onoufriadis,Victoria E. R. Parker,Felicity Payne,F. Lucy Raymond,Nicola D. Roberts,David B. Savage,Peter J. Scambler,Miriam Schmidts,Nadia Schoenmakers,Robert K. Semple,Eva Goncalves Serra,Olivera Spasic-Boskovic,Elizabeth Stevens,Margriet van Kogelenberg,Parthiban Vijayarangakannan,Kathleen A. Williamson,Crispian Wilson,Tamieka Whyte,Antonio Ciampi,Karim Oualkacha,Martin Bobrow,Heather Griffin,Jane Kaye,Karen Kennedy,Alastair Kent,Carol Smee,R. Charlton,Rosemary Ekong,Farrah Khawaja,Luis R. Lopes,Nicola Migone,Stewart J. Payne,Rebecca C. Pollitt,Sue Povey,Cheryl K. Ridout,Rachel L. Robinson,Richard H Scott,Adam Shaw,Petros Syrris,Rohan Taylor,Anthony M. Vandersteen,Antoinette Amuzu,Juan P. Casas,John C. Chambers,George Dedoussis,Giovanni Gambaro,Paolo Gasparini,Aaron Isaacs,Jon Johnson,Marcus E. Kleber,Jaspal S. Kooner,Claudia Langenberg,Jian'an Luan,Giovanni Malerba,Winfried Maerz,Angela Matchan,Richard W Morris,Børge G. Nordestgaard,Marianne Benn,Robert A. Scott,Daniela Toniolo,Michela Traglia,Anne Tybjærg-Hansen,Cornelia M. van Duijn,Elisabeth M. van Leeuwen,Anette Varbo,Peter H. Whincup,Gianluigi Zaza,Weihua Zhang +241 more
TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.
Journal ArticleDOI
Whole-genome sequence-based analysis of thyroid function
Peter N. Taylor,Eleonora Porcu,Shelby Chew,Purdey J Campbell,Michela Traglia,Suzanne J. Brown,Benjamin H. Mullin,Hashem A. Shihab,J L Min,Klaudia Walter,Yasin Memari,Jie Huang,Michael R. Barnes,John Beilby,Pimphen Charoen,Petr Danecek,Frank Dudbridge,Vincenzo Forgetta,Celia M. T. Greenwood,Elin Grundberg,Andrew D Johnson,Jennie Hui,Ee Mun Lim,Shane A. McCarthy,Dawn Muddyman,Vijay Panicker,John R. B. Perry,Jordana T. Bell,Wei Yuan,Caroline L Relton,Tom R. Gaunt,David Schlessinger,Gonçalo R. Abecasis,Francesco Cucca,Gabriela L. Surdulescu,Wolfram Woltersdorf,Eleftheria Zeggini,Hou-Feng Zheng,Daniela Toniolo,Colin M. Dayan,Silvia Naitza,John P. Walsh,Tim D. Spector,George Davey Smith,Richard Durbin,J. Brent Richards,Serena Sanna,Nicole Soranzo,Nicholas J. Timpson,Scott Wilson +49 more
TL;DR: It is demonstrated that increased coverage in whole-genome sequence association studies identifies novel variants associated with thyroid function as well as common variants that explain ≥20% of the variance in TSH and FT4.
Journal ArticleDOI
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Nicholas J. Timpson,Klaudia Walter,Josine L. Min,Ioanna Tachmazidou,Giovanni Malerba,So-Youn Shin,Lu Chen,Marta Futema,Lorraine Southam,Valentina Iotchkova,Massimiliano Cocca,Jie Huang,Yasin Memari,Shane A. McCarthy,Petr Danecek,Dawn Muddyman,Massimo Mangino,Cristina Menni,John R. B. Perry,Susan M. Ring,Amadou Gaye,George Dedoussis,Aliki-Eleni Farmaki,Paul Burton,Philippa J. Talmud,Giovanni Gambaro,Tim D. Spector,George Davey Smith,Richard Durbin,J. Brent Richards,Steve E. Humphries,Eleftheria Zeggini,Nicole Soranzo +32 more
TL;DR: It is shown that a single predicted splice donor variant is responsible for association signals and is independent of known common variants, and an independent relationship between rs138326449 and high-density lipoprotein (HDL) levels is suggested.
Journal ArticleDOI
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Miriam Schmidts,Yuqing Hou,Claudio Cortes,Dorus A. Mans,Céline Huber,Karsten Boldt,Mitali P. Patel,Jeroen van Reeuwijk,Jean-Marc Plaza,Sylvia E. C. van Beersum,Zhi Min Yap,Stef J.F. Letteboer,S. Paige Taylor,Warren Herridge,Colin A. Johnson,Peter J. Scambler,Marius Ueffing,Hülya Kayserili,Deborah Krakow,Stephen M. King,Philip L. Beales,Lihadh Al-Gazali,Carol Wicking,Valérie Cormier-Daire,Ronald Roepman,Hannah M. Mitchison,George B. Witman,Saeed Al-Turki,Carl A. Anderson,Richard Anney,Dinu Antony,Jennifer L. Asimit,Mohammad Ayub,Jeffrey C. Barrett,Inês Barroso,Jamie Bentham,Shoumo Bhattacharya,Douglas Blackwood,Martin Bobrow,Elena G. Bochukova,Patrick Bolton,Chris Boustred,Gerome Breen,Marie-Jo Brion,Andrew Brown,Mattia Calissano,Keren J. Carss,Krishna Chatterjee,Lu Chen,Sebhattin Cirak,Peter Clapham,Gail Clement,Guy Coates,David A. Collier,Catherine Cosgrove,Tony Cox,Nicholas John Craddock,Lucy Crooks,Sarah Curran,Allan Daly,Petr Danecek,George Davey Smith,Aaron G. Day-Williams,Ian N. M. Day,Richard Durbin,Sarah Edkins,Peter R. Ellis,David M. Evans,I. Sadaf Farooqi,Ghazaleh Fatemifar,David R. FitzPatrick,Paul Flicek,Jamie Floyd,A. Reghan Foley,Chris S Franklin,Marta Futema,Louise Gallagher,Tom R. Gaunt,Daniel H. Geschwind,Celia M. T. Greenwood,Detelina Grozeva,Xiaosen Guo,Hugh Gurling,Deborah J. Hart,Audrey E. Hendricks,Peter Holmans,Jie Huang,Steve E. Humphries,Matthew E. Hurles,Pirro G. Hysi,David A. Jackson,Yalda Jamshidi,David Jewell,Joyce Chris,Jane Kaye,Thomas M. Keane,John P. Kemp,Karen Kennedy,Alastair Kent,Anja Kolb-Kokocinski,Genevieve Lachance,Cordelia Langford,Irene Lee,Rui Li,Yingrui Li,Liu Ryan,Jouko Lönnqvist,Margarida C. Lopes,Daniel G. MacArthur,Mangino Massimo,Jonathan Marchini,John Maslen,Shane A. McCarthy,Peter McGuffin,Andrew M. McIntosh,Andrew McKechanie,Andrew McQuillin,Yasin Memari,Sarah Metrustry,J L Min,Alireza Moayyeri,James Morris,Dawn Muddyman,Francesco Muntoni,Kate Northstone,Michael Conlon O'Donovan,Stephen O'Rahilly,Alexandros Onoufriadis,Karim Oualkacha,Michael John Owen,Aarno Palotie,Kalliope Panoutsopoulou,Victoria E. R. Parker,Jeremy R. Parr,Lavinia Paternoster,Tiina Paunio,Felicity Payne,John Perry,Olli Pietiläinen,Vincent Plagnol,Michael A. Quail,Lydia Quaye,Lucy Raymond,Karola Rehnström,J. Brent Richards,Susan M. Ring,Graham R S Ritchie,David B. Savage,Nadia Schoenmakers,Robert K. Semple,Eva Goncalves Serra,Hashem A. Shihab,So-Youn Shin,David Skuse,Kerrin S. Small,Carol Smee,Artigas María Soler,Nicole Soranzo,Lorraine Southam,Tim D. Spector,Beate St Pourcain,David St Clair,Jim Stalker,Gabriela L. Surdulescu,Jaana Suvisaari,Ioanna Tachmazidou,Jing Tian,Nic Timpson,Martin D. Tobin,Ana M. Valdes,Margriet van Kogelenberg,Parthiban Vijayarangakannan,Louise V. Wain,Klaudia Walter,Jun Wang,Kirsten J. Ward,Ellie Wheeler,Ros Whittall,Hywel Williams,Kathy Williamson,Scott Wilson,Kim Wong,Tamieka Whyte,Xu ChangJiang,Eleftheria Zeggini,Feng Zhang,Hou-Feng Zheng +186 more
TL;DR: TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance are identified and defined as an integral component of the evolutionarily conserved retrograde IFT machinery.
Journal ArticleDOI
Implementing a successful data-management framework: the UK10K managed access model.
TL;DR: The development of a sustainable, easy-to-use managed access system that allowed rapid access to UK10K data, while protecting the interests of participants and data generators alike is described.