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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Book ChapterDOI
Accounting for non-genetic factors improves the power of eQTL studies
TL;DR: This work presents a model that explicitly accounts for non-genetic factors so as to improve significantly the power of an expression Quantitative Trait Loci study, and exploits the inherent block structure of haplotype data to further enhance its sensitivity.
Posted ContentDOI
Health and population effects of rare gene knockouts in adult humans with related parents
Vagheesh M. Narasimhan,Karen A. Hunt,Dan Mason,Christopher L. Baker,Konrad J. Karczewski,Michael R. Barnes,Anthony H. Barnett,Christopher M. Bates,Srikanth Bellary,Nicholas A. Bockett,Kristina Giorda,Chris Griffiths,Harry Hemingway,Jia Zhilong,Ann M. Kelly,Hajrah A. Khawaja,Monkol Lek,Shaun McCarthy,Rosie McEachan,Kenneth Paigen,Costas Parisinos,Eamonn Sheridan,Laura Southgate,Louise Tee,Mark G. Thomas,Yali Xue,Michael Schnall-Levin,Petko M. Petkov,Chris Tyler-Smith,Eamonn R. Maher,Richard C. Trembath,Daniel G. MacArthur,John Wright,Richard Durbin,David A. van Heel +34 more
TL;DR: Exome sequenced 3,222 British Pakistani-heritage adults with high parental relatedness, discovering 1,111 rare-variant homozygous likely loss of function (rhLOF) genotypes predicted to disrupt (knockout) 781 genes, and showed meiotic recombination sites localised away from PRDM9-dependent hotspots, demonstratingPRDM9 redundancy in humans.
Journal ArticleDOI
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Alessandra Vigilante,Anna Laddach,Nathalie Moens,Ruta Meleckyte,Andreas Leha,Arsham Ghahramani,Oliver J. Culley,Annie Kathuria,Chloe Hurling,Alice Vickers,Erika Wiseman,Mukul Tewary,Peter W. Zandstra,Richard Durbin,Franca Fraternali,Oliver Stegle,Ewan Birney,Nicholas M. Luscombe,Davide Danovi,Fiona M. Watt +19 more
TL;DR: This study establishes a strategy for examining the genetic basis of inter-individual variability in cell behavior and identifies genes that correlate in expression with intrinsic and extrinsic PEER factors and associate outlier cell behavior with genes containing rare deleterious non-synonymous SNVs.
Journal ArticleDOI
Tc7, a Tc1-hitch hiking transposon in Caenorhabditis elegans
TL;DR: Tc7 shares with Tc1 all the sequences minimally required to parasitize upon the T c1 transposition machinery, and the genomic distribution of Tc7 shows a striking clustering on the X chromosome where two thirds of the elements are located.
Posted ContentDOI
A High-Quality De Novo Genome Assembly from a Single Mosquito using PacBio Sequencing
Sarah B. Kingan,Haynes Heaton,Juliana Cudini,Christine C. Lambert,Primo Baybayan,Brendan Galvin,Richard Durbin,Jonas Korlach,Mara K. N. Lawniczak +8 more
TL;DR: A high-quality de novo genome assembly from a single Anopheles coluzzii mosquito is presented, which places 667 (>90%) of formerly unplaced genes into their appropriate chromosomal contexts in the AgamP4 PEST reference.