Author: Richard Durbin

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Preprints

Genome Graphs

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Insights into human genetic variation and population history from 929 diverse genomes

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The population history of northeastern Siberia since the Pleistocene

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Iron Age and Anglo-Saxon genomes from East England reveal British migration history

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Inferring human population size and separation history from multiple genome sequences

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A reference panel of 64,976 haplotypes for genotype imputation

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Towards complete and error-free genome assemblies of all vertebrate species

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Sequence variation aware genome references and read mapping with the variation graph toolkit

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Efficiently inferring the demographic history of many populations with allele count data

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Whole genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene flow

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Common genetic variation drives molecular heterogeneity in human iPSCs

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souporcell: Robust clustering of single cell RNAseq by genotype and ambient RNA inference without reference genotypes

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Using reference-free compressed data structures to analyse sequencing reads from thousands of human genomes

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Identifying and removing haplotypic duplication in primary genome assemblies

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Reference-based phasing using the Haplotype Reference Consortium panel

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A High-Quality De Novo Genome Assembly from a Single Mosquito using PacBio Sequencing

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Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph

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Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

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Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

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A haplotype-aware de novo assembly of related individuals using pedigree graph

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  • Site-wide: 12,261
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  • Site-wide: 100,163

Contrasting genome dynamics between domesticated and wild yeasts

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Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions

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A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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trio-sga: facilitating de novo assembly of highly heterozygous genomes with parent-child trios

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Detecting archaic introgression without archaic reference genomes

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Identifying extrinsic versus intrinsic drivers of variation in cell behaviour in human iPS cell lines from healthy donors

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Placing ancient DNA sequences into reference phylogenies

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  • Site-wide: 1,480
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Recombination Suppression is Unlikely to Contribute to Speciation in Sympatric Heliconius Butterflies

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Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

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The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

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Haplotype-aware graph indexes

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Crumble: reference free lossy compression of sequence quality values

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A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning

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Fast and scalable genome-wide inference of local tree topologies from large number of haplotypes based on tree consistent PBWT data structure

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Ancestral hybridisation facilitated species diversification in the Lake Malawi cichlid fish adaptive radiation

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Complete vertebrate mitogenomes reveal widespread gene duplications and repeats

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Pathway based factor analysis of gene expression data produces highly heritable phenotypes that associate with age

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Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

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A high-quality, chromosome-level genome assembly of the Black Soldier Fly (Hermetia Illucens L.)

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The methylomes of Lake Malawi cichlids reveal epigenetic variation associated with phenotypic diversification

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