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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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A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals
Vagheesh M. Narasimhan,Raheleh Rahbari,Aylwyn Scally,Arthur Wuster,Dan Mason,Yali Xue,John Wright,Richard C. Trembath,Eamonn R. Maher,van Heel Da,Adam Auton,Matthew E. Hurles,Chris Tyler-Smith,Richard Durbin +13 more
TL;DR: Exome sequences from 3,222 British-Pakistani individuals with high parental relatedness are used to estimate exome mutation rates, finding frequent recurrence of mutations at polymorphic CpG sites, and an increase in C to T mutations in the Pakistani population compared to Europeans, suggesting that mutational processes have evolved rapidly between human populations.
Posted ContentDOI
Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph
TL;DR: It is demonstrated that aligning aDNA sequences to variation graphs allows recovering a higher fraction of non-reference variation and effectively mitigates the impact of reference bias in population genetics analyses using aDNA, while retaining mapping sensitivity.
Journal ArticleDOI
Genomix: a method for combining gene-finders' predictions, which uses evolutionary conservation of sequence and intron–exon structure
Avril Coghlan,Richard Durbin +1 more
TL;DR: Genomix was used to combine predictions from four gene-finders for Caenorhabditis elegans, by selecting the predicted exons that are best conserved with C.briggsae and C.elegans by increasing the exon-level specificity and sensitivity compared to the best input gene-finder.
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WormBase: Annotating many nematode genomes.
Kevin L. Howe,Paul Davis,Michael Paulini,Mary Ann Tuli,Gary Williams,Karen Yook,Richard Durbin,Paul J. Kersey,Paul W. Sternberg +8 more
TL;DR: WormBase's role of genome sequence annotation is described, describing how it annotate and integrate data from a growing collection of nematode species and strains, and the impact on annotation quality of large functional genomics projects such as modENCODE is discussed.
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: In this article, the authors present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing, revealing an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions.