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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.
Papers
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Journal ArticleDOI
Evolutionary Genomics at the Human-Environment Interface in Africa.
Hannes Svardal,Hannes Svardal,Bosco Rusuwa,Tyler Linderoth,Anmol M. Kiran,Anne Charmantier,H. Michael G. Lattorff,Alex Cagan,Sheila C. Ommeh,Arox W. Kamng’ona,Cyprian Katongo,M. Emília Santos,Richard Durbin,Benjamin Kumwenda,Peter M. Visscher,Sophie von der Heyden +15 more
TL;DR: The goals of this conference were to reach a world class standard of science with a large number of contributions from within Africa, to initiate an exchange between African and international researchers and to identify challenges and opportunities for evolutionary genomics research in Africa.
Posted ContentDOI
Crumble: reference free lossy compression of sequence quality values
TL;DR: The bulk of space taken up by NGS sequencing CRAM files consists of per-base quality values, offering an opportunity for space saving, and a 17 fold reduction in quality storage can be achieved while maintaining variant calling accuracy.
Book ChapterDOI
Invited Lecture - Accelerating Smith-Waterman Searches
Gene Myers,Richard Durbin +1 more
TL;DR: This work searches a database for a local alignment to a query under a typical scoring scheme such as PAM120 or BLOSUM62 and finds a set of tables that permit one to eliminate a large fraction of the dynamic programming matrix from consideration and compute several steps of the remainder with a single table lookup.
Posted ContentDOI
High-resolution species assignment of Anopheles mosquitoes using k-mer distances on targeted sequences
Marilou Boddé,Alexey I. Makunin,Diego Ayala,Lemonde Bouafa,Abdoulaye Diabaté,Uwem F Ekpo,Mahamadi Kientega,Gilbert Le Goff,Boris Makanga,Marc F. Ngangue,Olaitan O. Omitola,Nil Rahola,Frédéric Tripet,Richard Durbin,Mara K. N. Lawniczak +14 more
TL;DR: NNoVAE is presented, a method using Nearest Neighbours (NN) and Variational Autoencoders (VAE), which is applied to k-mers resulting from the ANOSPP amplicon sequences in order to hierarchically assign species identity, and is used to survey Anopheles species diversity and Plasmodium transmission patterns through space and time on a large scale.
Posted ContentDOI
Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity
Massimiliano Cocca,Marc Pybus,Pier Francesco Palamara,Erik Garrison,Michela Traglia,Cinzia Sala,Sheila Ulivi,Yasin Memari,Anja Kolb-Kokocinski,Shane A. McCarthy,Richard Durbin,Paolo Gasparini,Daniela Toniolo,Nicole Soranzo,Vincenza Colonna +14 more
TL;DR: In this article, the authors carried out low-read depth (4-10x) whole-genome sequencing in 568 individuals from three Italian founder populations, and compared it to data from other Italian and European populations from the 1000 Genomes Project.