S
Sarah Edkins
Researcher at Wellcome Trust Sanger Institute
Publications - 107
Citations - 47463
Sarah Edkins is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Genome-wide association study & Mutation. The author has an hindex of 69, co-authored 105 publications receiving 44044 citations. Previous affiliations of Sarah Edkins include Max Planck Society.
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Journal ArticleDOI
Mutations of the BRAF gene in human cancer
Helen Davies,Graham R. Bignell,Charles Cox,Philip J. Stephens,Sarah Edkins,S. M. Clegg,Jon W. Teague,Hayley Woffendin,Mathew J. Garnett,William Bottomley,Neil Davis,Ed Dicks,Rebecca Ewing,Yvonne Floyd,Kristian Gray,S. Hall,Rachel Hawes,Jaime Hughes,Vivian Kosmidou,Andrew Menzies,Catherine Mould,Adrian Parker,Claire Stevens,Stephen Watt,Steven Hooper,Rebecca Wilson,Hiran Jayatilake,Barry A. Gusterson,Colin Cooper,Janet Shipley,Darren Hargrave,Kathy Pritchard-Jones,Norman J. Maitland,Georgia Chenevix-Trench,Gregory J. Riggins,Darell D. Bigner,Giuseppe Palmieri,Antonio Cossu,Adrienne M. Flanagan,Andrew G. Nicholson,Judy W. C. Ho,Suet Yi Leung,Siu Tsan Yuen,Barbara L. Weber,Hilliard F. Seigler,Timothy L. Darrow,Hugh Paterson,Richard Marais,Christopher J. Marshall,Richard Wooster,Michael R. Stratton,P. Andrew Futreal +51 more
TL;DR: BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Journal ArticleDOI
Patterns of somatic mutation in human cancer genomes
Christopher Greenman,Philip J. Stephens,Raffaella Smith,Gillian L. Dalgliesh,Christopher I. Hunter,Graham R. Bignell,Helen Davies,Jon W. Teague,Adam Butler,Claire Stevens,Sarah Edkins,Sarah O’Meara,Imre Vastrik,Esther Schmidt,Tim Avis,Syd Barthorpe,Gurpreet Bhamra,Gemma Buck,Bhudipa Choudhury,Jody Clements,Jennifer Cole,Ed Dicks,Simon A. Forbes,Kris Gray,Kelly Halliday,Rachel Harrison,Katy Hills,Jon Hinton,Andy Jenkinson,David T. Jones,Andy Menzies,Tatiana Mironenko,Janet Perry,Keiran Raine,Dave Richardson,Rebecca Shepherd,Alexandra Small,Calli Tofts,Jennifer Varian,Tony Webb,Sofie West,Sara Widaa,Andrew D. Yates,Daniel P. Cahill,David N. Louis,Peter Goldstraw,Andrew G. Nicholson,Francis Brasseur,Leendert H. J. Looijenga,Barbara L. Weber,Yoke Eng Chiew,Anna deFazio,Mel Greaves,Anthony R. Green,Peter J. Campbell,Ewan Birney,Douglas F. Easton,Georgia Chenevix-Trench,Min-Han Tan,Sok Kean Khoo,Bin Tean Teh,Siu Tsan Yuen,Suet Yi Leung,Richard Wooster,P. Andrew Futreal,Michael R. Stratton,Michael R. Stratton +66 more
TL;DR: More than 1,000 somatic mutations found in 274 megabases of DNA corresponding to the coding exons of 518 protein kinase genes in 210 diverse human cancers reveal the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated.
Journal ArticleDOI
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Stephen Sawcer,Garrett Hellenthal,Matti Pirinen,Chris C. A. Spencer,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Loukas Moutsianas,Alexander T. Dilthey,Zhan Su,Colin Freeman,Sarah E. Hunt,Sarah Edkins,Emma Gray,David R. Booth,Simon C. Potter,An Goris,Gavin Band,Annette Bang Oturai,A. Strange,Janna Saarela,Céline Bellenguez,Bertrand Fontaine,Matthew W. Gillman,Bernhard Hemmer,Rhian Gwilliam,Frauke Zipp,Alagurevathi Jayakumar,Roland Martin,Stephen Leslie,Stanley Hawkins,Eleni Giannoulatou,Sandra D'Alfonso,Hannah Blackburn,Filippo Martinelli Boneschi,Jennifer Liddle,Hanne F. Harbo,Hanne F. Harbo,M. Perez,Anne Spurkland,Matthew Waller,Marcin P. Mycko,Michelle Ricketts,Manuel Comabella,Naomi Hammond,Ingrid Kockum,O. T. McCann,Maria Ban,Pamela Whittaker,Anu Kemppinen,Paul A. Weston,Clive Hawkins,Sara Widaa,John Zajicek,John Zajicek,Serge Dronov,Neil Robertson,Suzannah Bumpstead,Lisa F. Barcellos,Lisa F. Barcellos,Rathi Ravindrarajah,Roby Abraham,Lars Alfredsson,Kristin G. Ardlie,Cristin Aubin,Amie Baker,K Baker,Sergio E. Baranzini,Laura Bergamaschi,Roberto Bergamaschi,Allan L. Bernstein,Achim Berthele,Mike Boggild,Jonathan P. Bradfield,David Brassat,Simon Broadley,Dorothea Buck,Helmut Butzkueven,Ruggero Capra,William M. Carroll,Paola Cavalla,Elisabeth Gulowsen Celius,Sabine Cepok,Rosetta M. Chiavacci,Françoise Clerget-Darpoux,Katleen Clysters,Giancarlo Comi,Mark D. Cossburn,Isabelle Cournu-Rebeix,M. B. Cox,Wendy Cozen,Bruce A.C. Cree,Anne H. Cross,Daniele Cusi,Mark J. Daly,Mark J. Daly,Emma J. Davis,Paul I.W. de Bakker,Paul I.W. de Bakker,Paul I.W. de Bakker,Marc Debouverie,Marie B. D'hooghe,K Dixon,Rita Dobosi,Bénédicte Dubois,David Ellinghaus,Irina Elovaara,Federica Esposito,Claire Fontenille,Simon J. Foote,Andre Franke,Daniela Galimberti,Angelo Ghezzi,Joseph T. Glessner,Refujia Gomez,Olivier Gout,Colin A. Graham,Struan F.A. Grant,Struan F.A. Grant,Franca Rosa Guerini,Hakon Hakonarson,Hakon Hakonarson,Per Hall,Anders Hamsten,Hans-Peter Hartung,Robert Heard,Simon Heath,Jeremy Hobart,Jeremy Hobart,Muna Hoshi,Carmen Infante-Duarte,Gillian Ingram,Wendy Ingram,Wendy Ingram,Talat Islam,Maja Jagodic,Michael Kabesch,Allan G. Kermode,Trevor J. Kilpatrick,Cecilia Kim,Norman Klopp,Keijo Koivisto,Malin Larsson,Mark Lathrop,Jeannette Lechner-Scott,Maurizio Leone,Virpi M. Leppä,Ulrika Liljedahl,Izaura Lima Bomfim,Robin R. Lincoln,Jenny Link,Jianjun Liu,Åslaug R. Lorentzen,Åslaug R. Lorentzen,Sara Lupoli,Fabio Macciardi,Fabio Macciardi,Thomas M. Mack,Mark Marriott,Vittorio Martinelli,Deborah F. Mason,Jacob L. McCauley,Frank D. Mentch,Inger-Lise Mero,Tania Mihalova,Xavier Montalban,John Mottershead,Kjell-Morten Myhr,Paola Naldi,William E R Ollier,Alison Page,Aarno Palotie,Jean Pelletier,Laura Piccio,Trevor Pickersgill,Fredrik Piehl,Susan Pobywajlo,Hong L. Quach,Patricia P. Ramsay,Mauri Reunanen,Richard Reynolds,John D. Rioux,John D. Rioux,Mariaemma Rodegher,Sabine Roesner,Justin P. Rubio,Ina-Maria Rueckert,Marco Salvetti,Erika Salvi,Adam Santaniello,Catherine Schaefer,Stefan Schreiber,Christian Schulze,Rodney J. Scott,Finn Sellebjerg,Krzysztof Selmaj,David Sexton,Ling Shen,Brigid Simms-Acuna,Sheila Skidmore,Patrick M. A. Sleiman,C. Smestad,Per Soelberg Sørensen,Helle Bach Søndergaard,Jim Stankovich,Richard C. Strange,Anna-Maija Sulonen,Emilie Sundqvist,Ann-Christine Syvaenen,Francesca Taddeo,Bruce V. Taylor,Jenefer M. Blackwell,Jenefer M. Blackwell,Jenefer M. Blackwell,Pentti J. Tienari,Elvira Bramon,Ayman Tourbah,Matthew A. Brown,Ewa Tronczynska,Juan P. Casas,Niall Tubridy,Aiden Corvin,Jane Vickery,Jane Vickery,Janusz Jankowski,Pablo Villoslada,Hugh S. Markus,Kai Wang,Christopher G. Mathew,James Wason,Colin N. A. Palmer,H-Erich Wichmann,H-Erich Wichmann,Robert Plomin,Ernest Willoughby,Anna Rautanen,Juliane Winkelmann,Michael Wittig,Richard C. Trembath,J. Yaouanq,Ananth C. Viswanathan,Ananth C. Viswanathan,Haitao Zhang,Nicholas W. Wood,Rebecca L. Zuvich,Panos Deloukas,Cordelia Langford,Audrey Duncanson,Jorge R. Oksenberg,Margaret A. Pericak-Vance,Jonathan L. Haines,Tomas Olsson,Jan Hillert,Adrian J. Ivinson,Philip L. De Jager,Philip L. De Jager,Philip L. De Jager,Leena Peltonen,Graeme J. Stewart,David A. Hafler,David A. Hafler,Stephen L. Hauser,Gil McVean,Peter Donnelly,Peter Donnelly,Alastair Compston +265 more
TL;DR: In this article, a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, they have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci.
Journal ArticleDOI
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Andrew P. Morris,Benjamin F. Voight,Benjamin F. Voight,Tanya M. Teslovich,Teresa Ferreira,Ayellet V. Segrè,Ayellet V. Segrè,Valgerdur Steinthorsdottir,Rona J. Strawbridge,Hassan Khan,Harald Grallert,Anubha Mahajan,Inga Prokopenko,Hyun Min Kang,Christian Dina,Tõnu Esko,Ross M. Fraser,Stavroula Kanoni,Ashok Kumar,Vasiliki Lagou,Claudia Langenberg,Jian'an Luan,Cecilia M. Lindgren,Martina Müller-Nurasyid,Sonali Pechlivanis,N. William Rayner,Laura J. Scott,S Wiltshire,Loic Yengo,Leena Kinnunen,Elizabeth J. Rossin,Elizabeth J. Rossin,Elizabeth J. Rossin,Soumya Raychaudhuri,Soumya Raychaudhuri,Andrew D. Johnson,Antigone S. Dimas,Antigone S. Dimas,Antigone S. Dimas,Ruth J. F. Loos,Sailaja Vedantam,Sailaja Vedantam,Han Chen,Jose C. Florez,Jose C. Florez,Caroline S. Fox,Caroline S. Fox,Ching-Ti Liu,Denis Rybin,David Couper,Wen Hong L. Kao,Man Li,Marilyn C. Cornelis,Peter Kraft,Qi Sun,Rob M. van Dam,Rob M. van Dam,Heather M. Stringham,Peter S. Chines,Krista Fischer,Pierre Fontanillas,Oddgeir L. Holmen,Sarah E. Hunt,Anne U. Jackson,Augustine Kong,Robert W. Lawrence,Julia Meyer,John R. B. Perry,John R. B. Perry,Carl G. P. Platou,Simon C. Potter,Emil Rehnberg,Neil Robertson,Suthesh Sivapalaratnam,Alena Stančáková,Kathleen Stirrups,Gudmar Thorleifsson,Emmi Tikkanen,Emmi Tikkanen,Andrew R. Wood,Peter Almgren,Mustafa Atalay,Rafn Benediktsson,Lori L. Bonnycastle,Noël P. Burtt,Jason Carey,Guillaume Charpentier,Andrew Crenshaw,Alex S. F. Doney,Mozhgan Dorkhan,Sarah Edkins,Valur Emilsson,Elodie Eury,Tom Forsén,Karl Gertow,Bruna Gigante,George B. Grant,Christopher J. Groves,Candace Guiducci,Christian Herder,Astradur B. Hreidarsson,Jennie Hui,Jennie Hui,Alan James,Alan James,Anna Jonsson,Wolfgang Rathmann,Norman Klopp,Jasmina Kravic,Kaarel Krjutškov,Cordelia Langford,Karin Leander,Eero Lindholm,Stéphane Lobbens,Satu Männistö,Ghazala Mirza,Thomas W. Mühleisen,Bill Musk,Bill Musk,Melissa Parkin,Loukianos S. Rallidis,Jouko Saramies,Bengt Sennblad,Sonia Shah,Gunnar Sigurðsson,Angela Silveira,Gerald Steinbach,Barbara Thorand,Joseph Trakalo,Fabrizio Veglia,Roman Wennauer,Wendy Winckler,Delilah Zabaneh,Harry Campbell,Cornelia M. van Duijn,André G. Uitterlinden,Albert Hofman,Eric J.G. Sijbrands,Gonçalo R. Abecasis,Katharine R. Owen,Eleftheria Zeggini,Mieke D. Trip,Nita G. Forouhi,Ann-Christine Syvänen,Johan G. Eriksson,Johan G. Eriksson,Leena Peltonen,Markus M. Nöthen,Beverley Balkau,Colin N. A. Palmer,Valeriya Lyssenko,Tiinamaija Tuomi,Bo Isomaa,David J. Hunter,Lu Qi,Alan R. Shuldiner,Alan R. Shuldiner,Michael Roden,Inês Barroso,Tom Wilsgaard,John Beilby,John Beilby,Kees Hovingh,Jackie F. Price,James F. Wilson,Rainer Rauramaa,Timo A. Lakka,Lars Lind,George Dedoussis,Inger Njølstad,Nancy L. Pedersen,Kay-Tee Khaw,Nicholas J. Wareham,Sirkka Keinänen-Kiukaanniemi,Timo Saaristo,Eeva Korpi-Hyövälti,Juha Saltevo,Markku Laakso,Johanna Kuusisto,Andres Metspalu,Francis S. Collins,Karen L. Mohlke,Richard N. Bergman,Jaakko Tuomilehto,Bernhard O. Boehm,Christian Gieger,Kristian Hveem,Stéphane Cauchi,Philippe Froguel,Philippe Froguel,Damiano Baldassarre,Elena Tremoli,Steve E. Humphries,Danish Saleheen,John Danesh,Erik Ingelsson,Samuli Ripatti,Samuli Ripatti,Samuli Ripatti,Veikko Salomaa,Raimund Erbel,Karl-Heinz Jöckel,Susanne Moebus,Annette Peters,Thomas Illig,Ulf de Faire,Anders Hamsten,Andrew D. Morris,Peter Donnelly,Timothy M. Frayling,Andrew T. Hattersley,Eric Boerwinkle,Eric Boerwinkle,Olle Melander,Sekar Kathiresan,Sekar Kathiresan,Peter M. Nilsson,Panos Deloukas,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Leif Groop,Kari Stefansson,Kari Stefansson,Frank B. Hu,James S. Pankow,Josée Dupuis,Josée Dupuis,James B. Meigs,James B. Meigs,David Altshuler,David Altshuler,Michael Boehnke,Mark I. McCarthy +232 more
TL;DR: This article conducted a meta-analysis of genetic variants on the Metabochip, including 34,840 cases and 114,981 controls, overwhelmingly of European descent, and identified ten previously unreported T2D susceptibility loci, including two showing sex-differentiated association.
Journal ArticleDOI
A comprehensive catalogue of somatic mutations from a human cancer genome
Erin Pleasance,R. Keira Cheetham,Philip J. Stephens,David J. McBride,Sean Humphray,Christopher Greenman,Ignacio Varela,Meng-Lay Lin,Gonzalo R. Ordóñez,Graham R. Bignell,Kai Ye,Julie Alipaz,Markus J. Bauer,David Beare,Adam Butler,Richard J. Carter,Lina Chen,Anthony J. Cox,Sarah Edkins,Paula Kokko-Gonzales,Niall Anthony Gormley,Russell J. Grocock,Christian D. Haudenschild,Matthew M. Hims,Terena James,Mingming Jia,Zoya Kingsbury,Catherine Leroy,John Marshall,Andrew Menzies,Laura Mudie,Zemin Ning,Thomas Royce,Ole Schulz-Trieglaff,Anastassia Spiridou,Lucy Stebbings,Lukasz Szajkowski,Jon W. Teague,David Williamson,Lynda Chin,Mark T. Ross,Peter J. Campbell,David R. Bentley,P. Andrew Futreal,Michael R. Stratton,Michael R. Stratton +45 more
TL;DR: The genomes of a malignant melanoma and a lymphoblastoid cell line from the same person are sequenced, providing the first comprehensive catalogue of somatic mutations from an individual cancer.