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Richard Durbin
Researcher at University of Cambridge
Publications - 337
Citations - 247542
Richard Durbin is an academic researcher from University of Cambridge. The author has contributed to research in topics: Genome & Population. The author has an hindex of 125, co-authored 319 publications receiving 207192 citations. Previous affiliations of Richard Durbin include Wellcome Trust Sanger Institute & University of Manchester.
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Journal ArticleDOI
A dimension reduction framework for understanding cortical maps
Richard Durbin,Graeme Mitchison +1 more
TL;DR: It is found that, in a simple case, certain self-organizing models generate maps that are near-optimally local, in the sense that they come close to minimizing the neuronal wiring required for local operations.
Journal ArticleDOI
Insights into human genetic variation and population history from 929 diverse genomes.
Anders Bergström,Anders Bergström,Shane A. McCarthy,Shane A. McCarthy,Ruoyun Hui,Ruoyun Hui,Mohamed A. Almarri,Qasim Ayub,Qasim Ayub,Petr Danecek,Yuan Chen,Sabine Felkel,Sabine Felkel,Pille Hallast,Pille Hallast,Jack Kamm,Jack Kamm,Hélène Blanché,Jean-François Deleuze,Howard M. Cann,Swapan Mallick,Swapan Mallick,David Reich,David Reich,Manjinder S. Sandhu,Manjinder S. Sandhu,Pontus Skoglund,Aylwyn Scally,Yali Xue,Richard Durbin,Richard Durbin,Chris Tyler-Smith +31 more
TL;DR: The authors' study adds data about African, Oceanian, and Amerindian populations and indicates that diversity tends to result from differences at the single-nucleotide level rather than copy number variation.
Journal ArticleDOI
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Hou-Feng Zheng,Vincenzo Forgetta,Yi-Hsiang Hsu,Yi-Hsiang Hsu,Karol Estrada,Alberto Roselló-Díez,Paul Leo,Chitra Lekha Dahia,Chitra Lekha Dahia,Kyung-Hyun Park-Min,Jonathan H Tobias,Charles Kooperberg,Aaron Kleinman,Unnur Styrkarsdottir,Ching-Ti Liu,Charlotta Uggla,Daniel S. Evans,Carrie M. Nielson,Klaudia Walter,Ulrika Pettersson-Kymmer,Shane A. McCarthy,Joel Eriksson,Tony Kwan,Mila Jhamai,Katerina Trajanoska,Yasin Memari,J L Min,Jie Huang,Petr Danecek,Beth Wilmot,Rui Li,Wen-Chi Chou,Lauren E. Mokry,Alireza Moayyeri,Alireza Moayyeri,Melina Claussnitzer,Chia-Ho Cheng,Warren A. Cheung,Carolina Medina-Gomez,Bing Ge,Shu Huang Chen,Kwangbom Choi,Ling Oei,James Fraser,Robert Kraaij,Matthew A. Hibbs,Matthew A. Hibbs,Celia L Gregson,Denis Paquette,Albert Hofman,Carl Wibom,Gregory J. Tranah,Mhairi Marshall,Brooke Gardiner,Katie Cremin,Paul L. Auer,Li Hsu,Susan M. Ring,Joyce Y. Tung,Gudmar Thorleifsson,A.W. Enneman,Natasja M. van Schoor,Lisette C. P. G. M. de Groot,Nathalie van der Velde,Beatrice Melin,John P. Kemp,John P. Kemp,Claus Christiansen,Adrian Sayers,Yanhua Zhou,Sophie Calderari,Jeroen van Rooij,Christopher S. Carlson,Ulrike Peters,Soizik Berlivet,Josée Dostie,André G. Uitterlinden,Stephen R. Williams,Charles R. Farber,Daniel Grinberg,Andrea Z. LaCroix,Jeffrey Haessler,Daniel I. Chasman,Franco Giulianini,Lynda M. Rose,Paul M. Ridker,John A. Eisman,John A. Eisman,John A. Eisman,Tuan V. Nguyen,Tuan V. Nguyen,Xavier Nogués,Xavier Nogués,Natalia Garcia-Giralt,Lenore Launer,V. Gudnason,Dan Mellström,Liesbeth Vandenput,Najaf Amin,Cornelia M. van Duijn,Magnus Karlsson,Östen Ljunggren,Olle Svensson,Göran Hallmans,François Rousseau,Sylvie Giroux,Johanne Bussiere,Pascal P. Arp,Fjorda Koromani,Richard L. Prince,Richard L. Prince,Joshua R. Lewis,Joshua R. Lewis,Bente L. Langdahl,A. Pernille Hermann,Jens Erik Beck Jensen,Stephen Kaptoge,Kay-Tee Khaw,Jonathan Reeve,Jonathan Reeve,Melissa M. Formosa,Angela Xuereb-Anastasi,Kristina Åkesson,Fiona E. McGuigan,Gaurav Garg,José M. Olmos,María T. Zarrabeitia,José A. Riancho,Stuart H. Ralston,Nerea Alonso,Xi Jiang,David Goltzman,Tomi Pastinen,Elin Grundberg,Dominique Gauguier,Eric S. Orwoll,David Karasik,George Davey-Smith,Albert V. Smith,Kristin Siggeirsdottir,Tamara B. Harris,M. Carola Zillikens,Joyce B. J. van Meurs,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Matthew T. Maurano,Nicholas J. Timpson,Nicole Soranzo,Richard Durbin,Scott Wilson,Scott Wilson,Scott Wilson,Evangelia E. Ntzani,Evangelia E. Ntzani,Matthew A. Brown,Kari Stefansson,Kari Stefansson,David A. Hinds,Tim D. Spector,L. Adrienne Cupples,Claes Ohlsson,Celia M. T. Greenwood,Rebecca D. Jackson,David W. Rowe,Cynthia A. Loomis,David M. Evans,David M. Evans,Cheryl L. Ackert-Bicknell,Alexandra L. Joyner,Emma L. Duncan,Emma L. Duncan,Douglas P. Kiel,Fernando Rivadeneira,J. Brent Richards,J. Brent Richards +174 more
TL;DR: Evidence is provided that low‐frequency non‐coding variants have large effects on BMD and fracture, thereby providing rationale for whole‐genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.
Journal ArticleDOI
Variation graph toolkit improves read mapping by representing genetic variation in the reference.
Erik Garrison,Jouni Sirén,Adam M. Novak,Glenn Hickey,Jordan M. Eizenga,Eric T. Dawson,Eric T. Dawson,William J. Jones,Shilpa Garg,Charles Markello,Michael F. Lin,Benedict Paten,Richard Durbin,Richard Durbin +13 more
TL;DR: Vg as discussed by the authors is a toolkit of computational methods for creating, manipulating, and using these structures as references at the scale of the human genome, which provides an efficient approach to mapping reads onto arbitrary variation graphs using generalized compressed suffix arrays, with improved accuracy over alignment to a linear reference.
Journal ArticleDOI
Efficient haplotype matching and storage using the positional Burrows–Wheeler transform (PBWT)
TL;DR: A theory of haplotype matching using suffix array ideas is developed, which should scale too much larger datasets than those currently handled by genotype algorithms, and also includes some proposals about how these approaches could be used for imputation and phasing.