R
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 federated ecosystem for sharing genomic, clinical data
Angela Page,David Baker,Martin Bobrow,Kym M. Boycott,John Burn,S. J. Chanock,S Donnelly,Edward S. Dove,Richard Durbin,Stephanie O.M. Dyke,Marc Fiume,Paul Flicek,David Glazer,Peter Goodhand,David Haussler,Kazuto Kato,Stephen Keenan,Bartha Maria Knoppers,R Liao,David Lloyd,Nicola Mulder,Arcadi Navarro,Kathryn N. North,Anthony A. Philippakis,Nazneen Rahman,Heidi L. Rehm,Charles L. Sawyers,Adrian Thorogood,James F. Wilson,David Altshuler,Thomas J. Hudson +30 more
TL;DR: This data-sharing effort has led to improved variant interpretation and development of treatments for rare diseases and some cancer types, but such benefits will only be available to the general population if researchers and clinicians can access and make comparisons across data from millions of individuals.
Posted ContentDOI
YaHS: yet another Hi-C scaffolding tool
TL;DR: Yahs as mentioned in this paper is a command-line tool for constructing chromosome-scale scaffolds from Hi-C data, which can be run with a single-line command and requires minimal input from users (an assembly file and an alignment file).
Journal ArticleDOI
Deficient methylation and formylation of mt-tRNA Met wobble cytosine in a patient carrying mutations in NSUN3
Lindsey Van Haute,Sabine Dietmann,Laura S. Kremer,Shobbir Hussain,Sarah F. Pearce,Christopher A. Powell,Joanna Rorbach,Rebecca Lantaff,Sandra Blanco,Sascha Sauer,Sascha Sauer,Sascha Sauer,Urania Kotzaeridou,Georg F. Hoffmann,Yasin Memari,Anja Kolb-Kokocinski,Richard Durbin,Johannes A. Mayr,Michaela Frye,Holger Prokisch,Michal Minczuk +20 more
TL;DR: It is shown that NSun3 is required for deposition of m5C at the anticodon loop in the mitochondrially encoded transfer RNA methionine (mt-tRNAMet), and f5C in human mitochondrial RNA is generated by oxidative processing of m 5C.
Journal ArticleDOI
MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads
Marcela Uliano-Silva,João Gabriel R. N. Ferreira,Ksenia Krasheninnikova,Giulio Formenti,Linelle Ann Lacson Abueg,James Torrance,Eugene W. Myers,Richard Durbin,Mark Blaxter,Shane A. McCarthy +9 more
Journal ArticleDOI
Extending reference assembly models
Deanna M. Church,Valerie A. Schneider,Karyn Meltz Steinberg,Michael C. Schatz,Aaron R. Quinlan,Chen-Shan Chin,Paul Kitts,Bronwen Aken,Gabor T. Marth,Michael M. Hoffman,Michael M. Hoffman,Javier Herrero,M. Lisandra Zepeda Mendoza,Richard Durbin,Paul Flicek +14 more
TL;DR: The models and analysis assumptions that underlie the current assembly need revising to fully represent human sequence diversity and improved analysis tools and updated data reporting formats are required.