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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
Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph.
Rui Martiniano,Erik Garrison,Erik Garrison,Eppie R. Jones,Andrea Manica,Richard Durbin,Richard Durbin +6 more
TL;DR: It is demonstrated that aligning aDNA sequences to variation graphs effectively mitigates the impact of reference bias when analyzing aDNA, while retaining mapping sensitivity and allowing detection of variation, in particular indel variation, that was previously missed.
Journal ArticleDOI
Homozygous loss-of-function variants in European cosmopolitan and isolate populations
Vera B. Kaiser,Victoria Svinti,James G. D. Prendergast,You-Ying Chau,Archie Campbell,Inga Patarčić,Inês Barroso,Peter K. Joshi,Nicholas D. Hastie,Ana Miljković,Martin S. Taylor,Generation Scotland,Uk K,Stefan Enroth,Yasin Memari,Anja Kolb-Kokocinski,Alan F. Wright,Ulf Gyllensten,Richard Durbin,Igor Rudan,Harry Campbell,Ozren Polasek,Ozren Polasek,Åsa Johansson,Sascha Sauer,David J. Porteous,Ross M. Fraser,Camilla Drake,Veronique Vitart,Caroline Hayward,Colin A. Semple,James F. Wilson +31 more
TL;DR: Overall HLOF genes are enriched for olfactory receptor function and are expressed in testes more often than expected, consistent with reduced purifying selection and incipient pseudogenisation.
Journal ArticleDOI
Improved techniques for the identification of pseudogenes
TL;DR: A program called pseudogene inference from loss of constraint (PSILC) is introduced which incorporates novel methods for separating pseudogenes from functional genes and it is shown that both these methods result in a more accurate classification of Pseudogenes than dN/dS when a Pfam domain alignment is available.
Journal ArticleDOI
Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease
Cynthia Sandor,Frantisek Honti,Wilfried Haerty,Wilfried Haerty,Konrad Szewczyk-Krolikowski,Konrad Szewczyk-Krolikowski,Paul R. Tomlinson,Paul R. Tomlinson,Sam Evetts,Sam Evetts,Stephanie Millin,Thomas M. Keane,Shane A. McCarthy,Richard Durbin,Kevin Talbot,Kevin Talbot,Michele T.M. Hu,Michele T.M. Hu,Caleb Webber,Chris P. Ponting,Richard Wade-Martins +20 more
TL;DR: No single non-synonymous (NS) single nucleotide variant (SNV) nor any gene carrying a higher burden of NS SNVs was significantly associated with PD status after multiple-testing correction, but significant enrichments of genes whose proteins have roles in the extracellular matrix were amongst the top 300 genes with the most significantly associated NSSNVs.
Posted ContentDOI
Whole Genome Sequences Of Malawi Cichlids Reveal Multiple Radiations Interconnected By Gene Flow
Milan Malinsky,Hannes Svardal,Alexandra M. Tyers,Eric A. Miska,Martin J. Genner,George F. Turner,Richard Durbin +6 more
TL;DR: The genomes of 73 cichlid fish species from Lake Malawi uncover evolutionary processes underlying a large adaptive evolutionary radiation, and enhance the understanding of genomic processes underlying rapid species diversification.