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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
SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples
Si Quang Le,Richard Durbin +1 more
TL;DR: Methods to discover and genotype single-nucleotide polymorphism (SNP) sites from low-coverage sequencing data, making use of shared haplotype (linkage disequilibrium) information are presented.
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High levels of RNA-editing site conservation amongst 15 laboratory mouse strains.
Petr Danecek,Christoffer Nellåker,Rebecca E. McIntyre,Jorge E Buendia-Buendia,Suzannah Bumpstead,Chris P. Ponting,Chris P. Ponting,Jonathan Flint,Richard Durbin,Thomas M. Keane,David J. Adams +10 more
TL;DR: In the Cds2 gene, evidence for RNA editing acting to preserve the ancestral transcript sequence despite genomic sequence divergence is found, showing that despite over two million years of evolutionary divergence, the sites edited and the level of editing at each site is remarkably consistent across the 15 strains.
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Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians
Luca Pagani,Luca Pagani,Luca Pagani,Stephan Schiffels,Deepti Gurdasani,Petr Danecek,Aylwyn Scally,Yuan Chen,Yali Xue,Marc Haber,Marc Haber,Rosemary Ekong,Tamiru Oljira,Ephrem Mekonnen,Donata Luiselli,Neil Bradman,Endashaw Bekele,Pierre Zalloua,Pierre Zalloua,Richard Durbin,Toomas Kivisild,Chris Tyler-Smith +21 more
TL;DR: Both the haplotype and MSMC analyses suggest a predominant northern route out of Africa via Egypt, pointing to Egypt as the more likely gateway in the exodus to the rest of the world.
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A computational scan for U12-dependent introns in the human genome sequence
Aaron D. Levine,Richard Durbin +1 more
TL;DR: Analysis of a new larger reference set of U12-dependent intron set confirmed reports of a biased distribution of U 12-dependent introns in the genome and allowed the identification of several alternative splicing events as well as a surprising number of apparent splicing errors.
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Genetic interactions affecting human gene expression identified by variance association mapping
Andrew A. Brown,Andrew A. Brown,Alfonso Buil,Alfonso Buil,Ana Viñuela,Tuuli Lappalainen,Tuuli Lappalainen,Hou-Feng Zheng,J. Brent Richards,J. Brent Richards,Kerrin S. Small,Tim D. Spector,Emmanouil T. Dermitzakis,Emmanouil T. Dermitzakis,Richard Durbin +14 more
TL;DR: This work identifies a candidate set of 508 variance associated SNPs from lymphoblastoid cell lines and shows that GxE plays a role in ∼70% of these associations, and investigates 57 epistatic interactions that replicated in a smaller dataset, explaining on average 4.3% of phenotypic variance.