K
Kathy Stirrups
Researcher at Wellcome Trust Sanger Institute
Publications - 11
Citations - 6142
Kathy Stirrups is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Genome-wide association study & Copy-number variation. The author has an hindex of 9, co-authored 11 publications receiving 5761 citations.
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Journal ArticleDOI
Origins and functional impact of copy number variation in the human genome
Donald F. Conrad,Dalila Pinto,Richard Redon,Richard Redon,Lars Feuk,Lars Feuk,Omer Gokcumen,Yujun Zhang,Jan Aerts,T. Daniel Andrews,Chris P. Barnes,Peter J. Campbell,Tomas W Fitzgerald,Min Hu,Chun Hwa Ihm,K. Kristiansson,Daniel G. MacArthur,Jeffrey R. MacDonald,Ifejinelo Onyiah,Andy Wing Chun Pang,Samuel Robson,Kathy Stirrups,Armand Valsesia,Klaudia Walter,John Wei,Chris Tyler-Smith,Nigel P. Carter,Charles Lee,Stephen W. Scherer,Stephen W. Scherer,Matthew E. Hurles +30 more
TL;DR: It is concluded that the heritability void left by genome-wide association studies will not be accounted for by common CNVs, and 30 loci with CNVs that are candidates for influencing disease susceptibility are identified.
Journal ArticleDOI
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Heribert Schunkert,Inke R. König,Sekar Kathiresan,Muredach P. Reilly,Themistocles L. Assimes,Hilma Holm,Michael Preuss,Alexandre F.R. Stewart,Maja Barbalić,Christian Gieger,Devin Absher,Zouhair Aherrahrou,Hooman Allayee,David Altshuler,Sonia S. Anand,Karl Andersen,Jeffrey L. Anderson,Diego Ardissino,Stephen G. Ball,Anthony J. Balmforth,Timothy A. Barnes,Diane M. Becker,Lewis C. Becker,Klaus Berger,Joshua C. Bis,S. Matthijs Boekholdt,Eric Boerwinkle,Peter S. Braund,Morris J. Brown,Mary Susan Burnett,Ian Buysschaert,John F. Carlquist,Li Chen,Sven Cichon,Veryan Codd,Robert W. Davies,George Dedoussis,Abbas Dehghan,Serkalem Demissie,Joseph M. Devaney,Patrick Diemert,Ron Do,Angela Doering,Sandra Eifert,Nour Eddine El Mokhtari,Stephen G. Ellis,Roberto Elosua,James C. Engert,Stephen E. Epstein,Ulf de Faire,Marcus Fischer,Aaron R. Folsom,Jennifer Freyer,Bruna Gigante,Domenico Girelli,Solveig Gretarsdottir,Vilmundur Gudnason,Jeffrey R. Gulcher,Eran Halperin,Naomi Hammond,Stanley L. Hazen,Albert Hofman,Benjamin D. Horne,Thomas Illig,Carlos Iribarren,Gregory T. Jones,J. Wouter Jukema,Michael A. Kaiser,Lee M. Kaplan,John J.P. Kastelein,Kay-Tee Khaw,Joshua W. Knowles,G. Kolovou,Augustine Kong,Reijo Laaksonen,Diether Lambrechts,Karin Leander,Guillaume Lettre,Mingyao Li,Wolfgang Lieb,Christina Loley,Andrew J. Lotery,Pier Mannuccio Mannucci,Seraya Maouche,Nicola Martinelli,Pascal P. McKeown,Christa Meisinger,Thomas Meitinger,Olle Melander,Pier Angelica Merlini,Vincent Mooser,Thomas M. Morgan,Thomas W. Mühleisen,Joseph B. Muhlestein,Thomas Münzel,Kiran Musunuru,Janja Nahrstaedt,Christopher P. Nelson,Markus M. Nöthen,Oliviero Olivieri,Riyaz S. Patel,Christopher Patterson,Annette Peters,Flora Peyvandi,Liming Qu,Arshed A. Quyyumi,Daniel J. Rader,Loukianos S. Rallidis,Catherine M. Rice,Frits R. Rosendaal,Diana Rubin,Veikko Salomaa,M. Lourdes Sampietro,M. S. Sandhu,Eric E. Schadt,Arne Scḧsignfer,Arne Schillert,Stefan Schreiber,Jürgen Schrezenmeir,Stephen M. Schwartz,David S. Siscovick,Mohan U. Sivananthan,Suthesh Sivapalaratnam,Albert V. Smith,Tamara B. Smith,Jaapjan D. Snoep,Nicole Soranzo,John A. Spertus,Klaus Stark,Kathy Stirrups,Monika Stoll,W.H. Wilson Tang,Stephanie Tennstedt,Gudmundur Thorgeirsson,Gudmar Thorleifsson,Maciej Tomaszewski,André G. Uitterlinden,Andre M. van Rij,Benjamin F. Voight,Nicholas J. Wareham,George A. Wells,H.-Erich Wichmann,Philipp S. Wild,Christina Willenborg,Jaqueline C M Witteman,Benjamin J. Wright,Shu Ye,Tanja Zeller,Andreas Ziegler,François Cambien,Alison H. Goodall,L. Adrienne Cupples,Thomas Quertermous,Winfried Mäsignrz,Christian Hengstenberg,Stefan Blankenberg,Willem H. Ouwehand,Alistair S. Hall,Panos Deloukas,John R. Thompson,Kari Stefansson,Robert Roberts,Unnur Thorsteinsdottir,Christopher J. O'Donnell,Ruth McPherson,Jeanette Erdmann,Nilesh J. Samani +166 more
TL;DR: This paper performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals.
Journal ArticleDOI
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Nicholas John Craddock,Matthew E. Hurles,Niall Cardin,Richard D. Pearson,Vincent Plagnol,Samuel Robson,Damjan Vukcevic,Chris P. Barnes,Donald F. Conrad,Eleni Giannoulatou,Christopher Holmes,Jonathan Marchini,Kathy Stirrups,Martin D. Tobin,Louise V. Wain,Christopher Yau,Jan Aerts,Tariq Ahmad,T. Daniel Andrews,Hazel Arbury,Anthony Attwood,Anthony Attwood,Anthony Attwood,Adam Auton,Stephen G. Ball,Anthony J. Balmforth,Jeffrey C. Barrett,Inês Barroso,Anne Barton,Amanda J. Bennett,Sanjeev S. Bhaskar,Katarzyna Blaszczyk,John Bowes,Oliver J. Brand,Peter S. Braund,Francesca Bredin,Gerome Breen,Gerome Breen,Morris J. Brown,Ian N. Bruce,Jaswinder Bull,Oliver S. Burren,John Burton,Jake K. Byrnes,Sian Caesar,Chris Clee,Alison J. Coffey,John M. C. Connell,Jason D. Cooper,Anna F. Dominiczak,Kate Downes,Hazel E. Drummond,Darshna Dudakia,Andrew Dunham,Bernadette Ebbs,Diana Eccles,Sarah Edkins,Cathryn Edwards,Anna Elliot,Paul Emery,David M. Evans,Gareth Evans,Steve Eyre,Anne Farmer,I. Nicol Ferrier,Lars Feuk,Lars Feuk,Tomas W Fitzgerald,Edward Flynn,Alistair Forbes,Liz Forty,Jayne A. Franklyn,Jayne A. Franklyn,Rachel M. Freathy,Polly Gibbs,Paul Gilbert,Omer Gokumen,Katherine Gordon-Smith,Katherine Gordon-Smith,Emma Gray,Elaine K. Green,Christopher J. Groves,Detelina Grozeva,Rhian Gwilliam,A Hall,Naomi Hammond,Matthew Hardy,Pile Harrison,Neelam Hassanali,Husam Hebaishi,Sarah Hines,Anne Hinks,Graham A. Hitman,Lynne J. Hocking,Eleanor Howard,Philip Howard,Joanna M. M. Howson,Debbie Hughes,Sarah E. Hunt,John D. Isaacs,Mahim Jain,Derek P. Jewell,Toby Johnson,Jennifer Jolley,Jennifer Jolley,Ian Jones,Lisa Jones,George Kirov,Cordelia Langford,Hana Lango-Allen,G. Mark Lathrop,James Lee,Kate L. Lee,Charlie W. Lees,Kevin Lewis,Cecilia M. Lindgren,Meeta Maisuria-Armer,Julian Maller,John C. Mansfield,Paul Martin,Dunecan Massey,Wendy L. McArdle,Peter McGuffin,Kirsten McLay,Alexander J. Mentzer,Michael L. Mimmack,Ann E. Morgan,Andrew P. Morris,Craig Mowat,Simon Myers,William G. Newman,Elaine R. Nimmo,Michael Conlon O'Donovan,Abiodun Onipinla,Ifejinelo Onyiah,Nigel R. Ovington,Michael John Owen,Kimmo Palin,Kirstie Parnell,David Pernet,John R. B. Perry,Anne M. Phillips,Dalila Pinto,Natalie J. Prescott,Inga Prokopenko,Michael A. Quail,Suzanne Rafelt,Nigel W. Rayner,Richard Redon,David M. Reid,Anthony Renwick,Susan M. Ring,Neil Robertson,E. Russell,David St Clair,Jennifer G. Sambrook,Jennifer G. Sambrook,Jeremy D. Sanderson,Helen Schuilenburg,Carol Scott,Richard T. Scott,Sheila Seal,Sue Shaw-Hawkins,Beverley M. Shields,Matthew J. Simmonds,Debbie J. Smyth,Elilan Somaskantharajah,Katarina Spanova,Sophia Steer,Jonathan Stephens,Jonathan Stephens,Helen Stevens,Millicent A. Stone,Millicent A. Stone,Zhan Su,Deborah P M Symmons,John R. Thompson,Wendy Thomson,Mary E. Travers,Clare Turnbull,Armand Valsesia,Mark Walker,Neil Walker,Chris Wallace,Margaret Warren-Perry,Nicholas A. Watkins,Nicholas A. Watkins,John Webster,Michael N. Weedon,Anthony G. Wilson,Matthew Woodburn,B. Paul Wordsworth,Allan H. Young,Allan H. Young,Eleftheria Zeggini,Eleftheria Zeggini,Nigel P. Carter,Timothy M. Frayling,Charles Lee,Gil McVean,Patricia B. Munroe,Aarno Palotie,Stephen Sawcer,Stephen W. Scherer,David P. Strachan,Chris Tyler-Smith,Matthew A. Brown,Matthew A. Brown,Paul Burton,Mark J. Caulfield,Alastair Compston,Martin Farrall,Stephen C. L. Gough,Stephen C. L. Gough,Alistair S. Hall,Andrew T. Hattersley,Adrian V. S. Hill,Christopher G. Mathew,Marcus Pembrey,Jack Satsangi,Michael R. Stratton,Jane Worthington,Panos Deloukas,Audrey Duncanson,Dominic P. Kwiatkowski,Dominic P. Kwiatkowski,Mark I. McCarthy,Willem H. Ouwehand,Willem H. Ouwehand,Willem H. Ouwehand,Miles Parkes,Nazneen Rahman,John A. Todd,Nilesh J. Samani,Nilesh J. Samani,Peter Donnelly +235 more
TL;DR: A large, direct genome-wide study of association between CNVs and eight common human diseases concludes that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis ofcommon human diseases.
Journal ArticleDOI
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease
John F. Peden,Jemma C. Hopewell,Danish Saleheen,John C. Chambers,Jorg Hager,Nicole Soranzo,Rory Collins,John Danesh,Paul Elliott,Martin Farrall,Kathy Stirrups,Weihua Zhang,Anders Hamsten,Anders Hamsten,Sarah Parish,Mark Lathrop,Hugh Watkins,Robert Clarke,Panos Deloukas,Jaspal S. Kooner,Anuj Goel,Halit Ongen,Rona J. Strawbridge,Rona J. Strawbridge,Simon Heath,Anders Mälarstig,Anders Mälarstig,Anna Helgadottir,John Öhrvik,John Öhrvik,Muhammed Murtaza,Simon C. Potter,Sarah E. Hunt,Marc Delepine,Shapour Jalilzadeh,Tomas Axelsson,Ann-Christine Syvänen,Rhian Gwilliam,Suzannah Bumpstead,Emma Gray,Sarah Edkins,Lasse Folkersen,Lasse Folkersen,Theodosios Kyriakou,Anders Franco-Cereceda,Anders Gabrielsen,Udo Seedorf,Per Eriksson,Per Eriksson,Alison Offer,Louise Bowman,Peter Sleight,Jane Armitage,Richard Peto,Gonçalo R. Abecasis,Nabeel Ahmed,Mark J. Caulfield,Peter Donnelly,Philippe Froguel,Angad S. Kooner,Mark I. McCarthy,Nilesh J. Samani,James Scott,Joban Sehmi,Angela Silveira,Angela Silveira,Mai-Lis Hellénius,Ferdinand M. van't Hooft,Ferdinand M. van't Hooft,Gunnar O Olsson,Stephan Rust,Gerd Assmann,Simona Barlera,Gianni Tognoni,Maria Grazia Franzosi,Pamela Linksted,Fiona Green,Asif Rasheed,Moazzam Zaidi,Nabi Shah,Maria Samuel,Nadeem Hayat Mallick,Muhammad Azhar,Khan Shah Zaman,Abdus Samad,M. Ishaq,Ali Raza Gardezi,Fazal-ur-Rehman Memon,Philippe M. Frossard,Tim D. Spector,Leena Peltonen,Leena Peltonen,Markku S. Nieminen,Juha Sinisalo,Veikko Salomaa,Samuli Ripatti,Derrick A Bennett,Karin Leander,Bruna Gigante,Ulf de Faire,Silvia Pietri,Francesca Gori,Roberto Marchioli,Suthesh Sivapalaratnam,John J.P. Kastelein,Mieke D. Trip,Eirini V. Theodoraki,George V. Dedoussis,Engert Jc,Salim Yusuf,Sonia S. Anand +110 more
TL;DR: Genome-wide association studies have identified 11 common variants convincingly associated with coronary artery disease (CAD), a modest number considering the apparent heritability of CAD(8) as mentioned in this paper.
Journal ArticleDOI
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits
Benjamin F. Voight,Hyun Min Kang,Jun Ding,Cameron D. Palmer,Cameron D. Palmer,Carlo Sidore,Carlo Sidore,Peter S. Chines,N P Burtt,Christian Fuchsberger,Yun Li,Jeanette Erdmann,Timothy M. Frayling,Iris M. Heid,Anne U. Jackson,Toby Johnson,Tuomas O. Kilpeläinen,Cecilia M. Lindgren,Andrew P. Morris,Inga Prokopenko,Inga Prokopenko,Joshua C. Randall,Richa Saxena,Richa Saxena,Nicole Soranzo,Elizabeth K. Speliotes,Elizabeth K. Speliotes,Tanya M. Teslovich,Eleanor Wheeler,Jared Maguire,Melissa Parkin,Simon C. Potter,Nigel W. Rayner,Nigel W. Rayner,Nigel W. Rayner,Neil Robertson,Neil Robertson,Kathy Stirrups,Wendy Winckler,Serena Sanna,Antonella Mulas,Ramaiah Nagaraja,Francesco Cucca,Inês Barroso,Inês Barroso,Panagiotis Deloukas,Ruth J. F. Loos,Sekar Kathiresan,Patricia B. Munroe,Christopher Newton-Cheh,Arne Pfeufer,Nilesh J. Samani,Nilesh J. Samani,Heribert Schunkert,Joel N. Hirschhorn,Joel N. Hirschhorn,Joel N. Hirschhorn,David Altshuler,Mark I. McCarthy,Mark I. McCarthy,Mark I. McCarthy,Gonçalo R. Abecasis,Michael Boehnke +62 more
TL;DR: The Metabochip and its component SNP sets are described and evaluated, its performance in capturing variation across the allele-frequency spectrum is evaluated, solutions to methodological challenges commonly encountered in its analysis are described, and its performance as a platform for genotype imputation is evaluated.