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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 dimension reduction framework for understanding cortical maps

TL;DR: It is found that, in a simple case, certain self-organizing models generate maps that are near-optimally local, in the sense that they come close to minimizing the neuronal wiring required for local operations.
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Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

Hou-Feng Zheng, +174 more
- 01 Oct 2015 - 
TL;DR: Evidence is provided that low‐frequency non‐coding variants have large effects on BMD and fracture, thereby providing rationale for whole‐genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.
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Variation graph toolkit improves read mapping by representing genetic variation in the reference.

TL;DR: Vg as discussed by the authors is a toolkit of computational methods for creating, manipulating, and using these structures as references at the scale of the human genome, which provides an efficient approach to mapping reads onto arbitrary variation graphs using generalized compressed suffix arrays, with improved accuracy over alignment to a linear reference.
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Efficient haplotype matching and storage using the positional Burrows–Wheeler transform (PBWT)

TL;DR: A theory of haplotype matching using suffix array ideas is developed, which should scale too much larger datasets than those currently handled by genotype algorithms, and also includes some proposals about how these approaches could be used for imputation and phasing.