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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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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 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.
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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.
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Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease

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

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.