Author: Richard Durbin

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Preprints

The complete sequence of a human genome

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Genome Graphs

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  • Site-wide: 994
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Insights into human genetic variation and population history from 929 diverse genomes

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  • Site-wide: 1,194
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  • Site-wide: 20,156

The population history of northeastern Siberia since the Pleistocene

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  • Site-wide: 2,728

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

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

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  • Site-wide: 1,894
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  • Site-wide: 1,459
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Inferring human population size and separation history from multiple genome sequences

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  • Site-wide: 2,082
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  • Site-wide: 45,359
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A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 2,565
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  • Site-wide: 107,894
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  • Site-wide: 114,986

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

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  • Site-wide: 3,253
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Efficiently inferring the demographic history of many populations with allele count data

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  • Site-wide: 3,913
  • In evolutionary biology: 69
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  • Site-wide: 40,288
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Whole genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene flow

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  • Site-wide: 4,236
  • In evolutionary biology: 82
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souporcell: Robust clustering of single cell RNAseq by genotype and ambient RNA inference without reference genotypes

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  • Site-wide: 4,839
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  • Site-wide: 11,756

Common genetic variation drives molecular heterogeneity in human iPSCs

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Identifying and removing haplotypic duplication in primary genome assemblies

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  • Site-wide: 6,150
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  • Site-wide: 5,049
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  • Site-wide: 5,579

Placing ancient DNA sequences into reference phylogenies

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

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  • Site-wide: 8,922
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  • Site-wide: 114,281
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  • Site-wide: 122,863

Reference-based phasing using the Haplotype Reference Consortium panel

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  • Site-wide: 9,169
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  • Site-wide: 76,060
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  • Site-wide: 112,576

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

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  • Site-wide: 9,786
  • In genomics: 1,012
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  • Site-wide: 35,010
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  • Site-wide: 55,605

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

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  • Site-wide: 10,660
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  • Site-wide: 131,207
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  • Site-wide: 113,796

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

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  • Site-wide: 11,645
  • In genomics: 1,213
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  • Site-wide: 40,757
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  • Site-wide: 59,218

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

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  • Site-wide: 12,765
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  • Site-wide: 72,533
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  • Site-wide: 58,473

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

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  • Site-wide: 15,010
  • In bioinformatics: 1,762
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  • Site-wide: 95,866
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  • Site-wide: 80,563

Contrasting genome dynamics between domesticated and wild yeasts

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  • Site-wide: 15,667
  • In genomics: 1,581
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  • Site-wide: 72,488
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  • Site-wide: 81,366

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

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  • Site-wide: 18,195
  • In genomics: 1,793
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  • Site-wide: 131,808
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  • Site-wide: 137,970

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

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  • Site-wide: 18,766
  • In genomics: 1,845
• Year to date:
  • Site-wide: 135,479
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  • Site-wide: 132,119

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

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  • Site-wide: 19,052
  • In bioinformatics: 2,214
• Year to date:
  • Site-wide: 85,963
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  • Site-wide: 122,761

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

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  • Site-wide: 19,147
  • In genetics: 899
• Year to date:
  • Site-wide: 92,251
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  • Site-wide: 81,983

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

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  • Site-wide: 19,146
  • In cell biology: 617
• Year to date:
  • Site-wide: 48,924
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  • Site-wide: 42,236

Detecting archaic introgression without archaic reference genomes

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  • Site-wide: 20,481
  • In evolutionary biology: 797
• Year to date:
  • Site-wide: 114,242
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  • Site-wide: 112,381

Recombination Suppression is Unlikely to Contribute to Speciation in Sympatric Heliconius Butterflies

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  • Site-wide: 22,080
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  • Site-wide: 94,905

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

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  • Site-wide: 22,960
  • In evolutionary biology: 955
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  • Site-wide: 77,377
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  • Site-wide: 86,424

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

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  • Site-wide: 24,415
  • In genetics: 1,132
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  • Site-wide: 105,459
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  • Site-wide: 104,530

Complete vertebrate mitogenomes reveal widespread gene duplications and repeats

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  • Site-wide: 26,120
  • In genomics: 2,420
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  • Site-wide: 10,263
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  • Site-wide: 25,240

Haplotype-aware graph indexes

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  • Site-wide: 31,439
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  • Site-wide: 97,602
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  • Site-wide: 87,589

Crumble: reference free lossy compression of sequence quality values

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  • Site-wide: 38,928
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  • Site-wide: 136,137
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  • Site-wide: 139,166

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

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  • Site-wide: 38,986
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  • Site-wide: 28,023

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

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  • Site-wide: 40,428
  • In genomics: 3,316
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  • Site-wide: 88,435
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  • Site-wide: 109,426

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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  • Site-wide: 40,484
  • In genomics: 3,311
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  • Site-wide: 87,687

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

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  • Site-wide: 47,851
  • In evolutionary biology: 2,408
• Year to date:
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  • Site-wide: 142,528

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

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  • Site-wide: 58,581
  • In evolutionary biology: 3,052
• Year to date:
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  • Site-wide: 48,385

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

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  • Site-wide: 59,081
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  • Site-wide: 146,648

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

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  • Site-wide: 61,449
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  • Site-wide: 131,405

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

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  • Site-wide: 76,852
  • In genomics: 5,148
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  • Site-wide: 17,784

False gene and chromosome losses affected by assembly and sequence errors

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