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List of works by Richard M. Durbin

100 ancient genomes show repeated population turnovers in Neolithic Denmark

scientific article published on 10 January 2024

A 2-million-year-old ecosystem in Greenland uncovered by environmental DNA

scientific article published on 7 December 2022

A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis

scientific article

A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies

scientific article

A High-Quality Genome Assembly from a Single Mosquito Using PacBio Sequencing

article

A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data

scientific article

A Workbench for large-scale sequence homology analysis

article

A computational scan for U12-dependent introns in the human genome sequence

scientific article published on October 2001

A conserved sequence motif in 3' untranslated regions of ribosomal protein mRNAs in nematodes

scientific article published on 17 August 2006

A dimension reduction framework for understanding cortical maps

scientific article

A dot-matrix program with dynamic threshold control suited for genomic DNA and protein sequence analysis

scientific article published in December 1995

A genome-wide survey of genetic variation in gorillas using reduced representation sequencing

scientific article

A global reference for human genetic variation

scientific article

A graph-based approach to diploid genome assembly.

scientific article published in July 2018

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

scientific article published on 20 December 2019

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

scientific article

A high-content platform to characterise human induced pluripotent stem cell lines

scientific article published on 19 November 2015

A high-definition view of functional genetic variation from natural yeast genomes

scientific article published on 14 January 2014

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

scientific article published on 01 May 2021

A large genome center's improvements to the Illumina sequencing system

scientific article

A map of human genome variation from population-scale sequencing ⬇️

scientific article published on October 28, 2010

A probabilistic model of 3' end formation in Caenorhabditis elegans

scientific article published on 24 June 2004

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A survey of expressed genes in Caenorhabditis elegans

scientific article

A systematic comparative and structural analysis of protein phosphorylation sites based on the mtcPTM database

scientific article

A table-driven, full-sensitivity similarity search algorithm

scientific article published in January 2003

A workbench for large-scale sequence homology analysis

scientific article published on June 1994

ACeDB and macace.

scientific article

Accounting for Non-genetic Factors Improves the Power of eQTL Studies

article

Accurate whole human genome sequencing using reversible terminator chemistry

scientific article

Alfresco--a workbench for comparative genomic sequence analysis

scientific article

An analogue approach to the travelling salesman problem using an elastic net method

scientific article

An expert system for processing sequence homology data.

scientific article published on January 1994

An integrated map of genetic variation from 1,092 human genomes

scientific article

An overview of Ensembl

scientific article (publication date: May 2004)

Analysis of Protein Domain Families in Caenorhabditis elegans ⬇️

scientific article published on December 1, 1997

Ancestral Hybridization Facilitated Species Diversification in the Lake Malawi Cichlid Fish Adaptive Radiation

scientific article published on 01 April 2020

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

scientific article published on 18 August 2019

Assemblathon 1: a competitive assessment of de novo short read assembly methods

scientific article

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

scientific article

BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals

scientific article

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

scientific article

Base qualities help sequencing software

scientific article published on March 1998

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

scientific article published on 19 January 2016

Clustering of phosphorylation site recognition motifs can be exploited to predict the targets of cyclin-dependent kinase

scientific article published on January 2007

Common genetic variation drives molecular heterogeneity in human iPSCs

Comparative ab initio prediction of gene structures using pair HMMs

scientific article published in October 2002

Comparative analysis of noncoding regions of 77 orthologous mouse and human gene pairs

scientific article

Comparative sequence analysis of the human and pufferfish Huntington's disease genes

scientific article

Confocal microscopy: applications in neurobiology.

scientific article published on August 1988

Contrasting evolutionary genome dynamics between domesticated and wild yeasts

scientific article published on 17 April 2017

Contrasting genome dynamics between domesticated and wild yeasts

Copy number variant detection in inbred strains from short read sequence data ⬇️

scientific article

Correction: Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association

scientific article published on 28 April 2015

Crumble: reference free lossy compression of sequence quality values

Crumble: reference free lossy compression of sequence quality values

scientific article published in January 2019

DNA sequence and analysis of human chromosome 9

scientific article

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

scientific article

De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms

scientific article published on 21 June 2017

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels

scientific article published on 13 October 2009

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

scientific journal article

Detecting archaic introgression using an unadmixed outgroup

scientific article published on 18 September 2018

Detecting archaic introgression without archaic reference genomes

Dindel: accurate indel calls from short-read data

scientific article

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Dynamic programming alignment accuracy

scientific article

Dynamite: a flexible code generating language for dynamic programming methods used in sequence comparison

scientific article published on January 1, 1997

Earth BioGenome Project: Sequencing life for the future of life

scientific article published on 23 April 2018

Ecological Speciation Promoted by Divergent Regulation of Functional Genes Within African Cichlid Fishes ⬇️

scientific article published on 1 November 2022

Ecological speciation promoted by divergent regulation of functional genes within African cichlid fishes

scientific article published on 8 January 2022

Efficient construction of an assembly string graph using the FM-index

scientific article

Efficient de novo assembly of large genomes using compressed data structures

scientific article

Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT).

scientific article

Enhanced protein domain discovery by using language modeling techniques from speech recognition.

scientific article

Enhanced protein domain discovery using taxonomy

scientific article

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

scientific article published on 23 June 2017

Ensembl 2002: accommodating comparative genomics

scientific article published on January 2003

Ensembl 2004

scientific article (publication date: 2004)

Ensembl 2005

scientific article

Ensembl 2006.

scientific article

Ensembl 2007

scientific article

Ensembl 2008

scientific article

Ensembl 2009

scientific article (publication date: 2009)

Ensembl 2011

scientific article

Ensembl 2012

scientific article

Ensembl's 10th year

scientific article

EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates

scientific article

Epigenetic divergence during early stages of speciation in an African crater lake cichlid fish

scientific article published in 2022

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article published on 12 May 2015

Erratum: Corrigendum: BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals

scholarly article published in Nature Methods

Erratum: The DNA sequence and biological annotation of human chromosome

scientific article published in Nature

Erratum: The anatomy of successful computational biology software

article

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Estimating telomere length from whole genome sequence data

scientific article

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

scientific article published on 21 August 2017

Estimation of epistatic variance components and heritability in founder populations and crosses

scientific article published on 17 October 2014

Ethical, legal, and social issues in the Earth BioGenome Project

scientific article published on 18 January 2022

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

scientific article

Extending reference assembly models

scientific article

Extent, causes, and consequences of small RNA expression variation in human adipose tissue

scientific article

Fast and accurate long-read alignment with Burrows-Wheeler transform

scientific article (publication date: March 2010)

Fast and accurate short read alignment with Burrows-Wheeler transform

scientific article

GAZE: a generic framework for the integration of gene-prediction data by dynamic programming

scientific article

GFAKluge: A C++ library and command line utilities for the Graphical Fragment Assembly formats

scientific article published on 01 January 2019

Gene expression and development databases for C. elegans

scientific article published in October 1997

Gene expression changes with age in skin, adipose tissue, blood and brain

scientific article

Gene structure conservation aids similarity based gene prediction

scientific article published on 4 February 2004

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

scientific article

GeneWise and Genomewise

scientific article published in May 2004

Genetic interactions affecting human gene expression identified by variance association mapping

scientific article

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

Genomic consequences of domestication of the Siamese fighting fish

scientific article published on 09 March 2022

Genomic evidence for the Pleistocene and recent population history of Native Americans

scientific article

Genomics of cold adaptations in the Antarctic notothenioid fish radiation

scientific article published in 2023

Genomix: a method for combining gene-finders' predictions, which uses evolutionary conservation of sequence and intron-exon structure

scientific article

Haplotype-aware graph indexes

Haplotype-aware graph indexes

scientific article published on 01 January 2020

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

scientific article

High-resolution mapping of complex traits with a four-parent advanced intercross yeast population.

scientific article published on 13 September 2013

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

scientific article

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences

scientific article

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

scientific article

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors

Identifying and removing haplotypic duplication in primary genome assemblies

scientific article published on 23 January 2020

Identity-by-descent-based phasing and imputation in founder populations using graphical models

scientific article

Image analysis of restriction enzyme fingerprint autoradiograms.

scientific article published in April 1989

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

scientific article published on 19 March 2015

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

scientific article

Improved techniques for the identification of pseudogenes

scientific article published in 2004

Inference of human population history from individual whole-genome sequences ⬇️

scientific article (publication date: 13 July 2011)

Inferring human population size and separation history from multiple genome sequences

scientific article published on 22 June 2014

Inferring selection on amino acid preference in protein domains

scientific article published on 18 December 2008

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Insights into hominid evolution from the gorilla genome sequence

scientific article

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

scientific article published on 01 March 2020

InterPro, progress and status in 2005

scientific article

InterPro--an integrated documentation resource for protein families, domains and functional sites

scientific article (publication date: December 2000)

InterPro: an integrated documentation resource for protein families, domains and functional sites

scientific article

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

scientific article

Is there a single pathway for the folding of a polypeptide chain?

scientific article

Joint genetic analysis of gene expression data with inferred cellular phenotypes

scientific article

Late Quaternary dynamics of Arctic biota from ancient environmental genomics

scientific article

Managing clinically significant findings in research: the UK10K example

scientific article

Mapping cis- and trans-regulatory effects across multiple tissues in twins

scientific article published on 02 September 2012

Mapping epigenetic divergence in the massive radiation of Lake Malawi cichlid fishes

scientific article published on 07 October 2021

Mapping epigenetic divergence in the massive radiation of Lake Malawi cichlid fishes

scientific article published on 24 November 2020

Mapping short DNA sequencing reads and calling variants using mapping quality scores

scientific article

Mapping trait loci by use of inferred ancestral recombination graphs

scientific article

Maximum discrimination hidden Markov models of sequence consensus

scientific article

Method for calculation of probability of matching a bounded regular expression in a random data string

scientific article published on January 1995

Mouse genomic variation and its effect on phenotypes and gene regulation

scientific article (publication date: 14 September 2011)

Neural networks. Learning from your neighbour

scientific article published in January 1992

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

article

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

scientific article

Patterns of cis regulatory variation in diverse human populations

scientific article

Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins

scientific article

Pfam: a comprehensive database of protein domain families based on seed alignments

scientific article (publication date: July 1997)

Pfam: clans, web tools and services

scientific article

Pfam: multiple sequence alignments and HMM-profiles of protein domains

scientific article published in January 1998

Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes

scientific article

Placing Ancient DNA Sequences into Reference Phylogenies

scientific article published on 01 February 2022

Population genomics of domestic and wild yeasts

scientific article

Population genomics of post-glacial western Eurasia

scientific article published on 10 January 2024

Prepublication data sharing

scientific article

Protein, DNA, and virus crystallography with a focused imaging proportional counter

scientific article

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

article

Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association

scientific article

QuickTree: building huge Neighbour-Joining trees of protein sequences

scientific article published in November 2002

RNA sequence analysis using covariance models

scientific article

Reference-based phasing using the Haplotype Reference Consortium panel

scientific article published on 03 October 2016

Regulatory evolution in proteins by turnover and lineage-specific changes of cyclin-dependent kinase consensus sites

scholarly article

Revealing the genetic structure of a trait by sequencing a population under selection

scientific article

Revising the human mutation rate: implications for understanding human evolution

scientific article published on 11 September 2012

SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples

scientific article

Sequence assembly with CAFTOOLS.

scientific article

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

scientific article published on 01 October 2018

Software for genome mapping by fingerprinting techniques

scholarly article by John Sulston et al published 1988 in Bioinformatics

Software for genome mapping by fingerprinting techniques.

scientific article published in March 1988

Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes

scientific article published on 04 May 2020

Systematic analysis of human protein complexes identifies chromosome segregation proteins

scientific article

Systematic functional analysis of the Caenorhabditis elegans genome using RNAi

scientific article (publication date: 16 January 2003)

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

scientific article published on August 2016

Tc7, a Tc1-hitch hiking transposon in Caenorhabditis elegans

scientific article published on October 1997

The C. elegans expression pattern database: a beginning

scientific article

The DNA sequence and analysis of human chromosome 13

scientific article

The DNA sequence and analysis of human chromosome 6

scientific article

The DNA sequence and biological annotation of human chromosome

scientific article

The DNA sequence and comparative analysis of human chromosome 10

scientific article

The DNA sequence and comparative analysis of human chromosome 20

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The Ensembl genome database project

scientific article

The InterPro database, 2003 brings increased coverage and new features

scientific article (publication date: 2003)

The InterPro database, an integrated documentation resource for protein families, domains and functional sites

scientific article (publication date: 2001)

The Pfam protein families database

scientific article (publication date: 2004)

The Pfam protein families database

scientific article (publication date: 2002)

The Pfam protein families database.

scientific article

The Sequence Alignment/Map format and SAMtools

scientific article (publication date: 15 August 2009)

The Sequence Ontology: a tool for the unification of genome annotations

scientific article published in 2005

The UK10K project identifies rare variants in health and disease

scientific article

The anatomy of successful computational biology software

scientific article

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

scientific article

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

scientific article

The diploid genome sequence of an Asian individual

scientific article

The first horse herders and the impact of early Bronze Age steppe expansions into Asia

scientific article

The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics

scientific article published in November 2003

The genome sequence of the Eurasian red squirrel, Sciurus vulgaris Linnaeus 1758

scientific article published on 03 February 2020

The genome sequence of the Eurasian river otter, Lutra lutra Linnaeus 1758

scientific article published on 19 February 2020

The genome sequence of the European golden eagle, <i>Aquila chrysaetos chrysaetos</i> Linnaeus 1758

publication published on 14 May 2021

The genome sequence of the brown trout, Salmo trutta Linnaeus 1758

scientific article published in 2021

The genome sequence of the eastern grey squirrel, Sciurus carolinensis Gmelin, 1788

scientific article published on 13 February 2020

The genomic and phenotypic diversity of Schizosaccharomyces pombe

scientific article published on 9 February 2015

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

scientific article published in Nature

The population history of northeastern Siberia since the Pleistocene

The population history of northeastern Siberia since the Pleistocene

scientific article published on 05 June 2019

The selection landscape and genetic legacy of ancient Eurasians

scientific article published on 10 January 2024

The variant call format and VCFtools

scientific article (publication date: August 2011)

Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians

scientific article

Trait variation in yeast is defined by population history

scientific article

Transposon Tc1-derived, sequence-tagged sites in Caenorhabditis elegans as markers for gene mapping

scientific article published on December 1996

TreeFam: 2008 Update

scientific article

TreeFam: a curated database of phylogenetic trees of animal gene families

scientific article

Using GeneWise in the Drosophila annotation experiment

scientific article published in April 2000

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

scientific article

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

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

scientific article

Variation graph toolkit improves read mapping by representing genetic variation in the reference

scientific article published on 20 August 2018

Vertebrate gene finding from multiple-species alignments using a two-level strategy

scientific article published on 7 August 2006

Viral coinfection analysis using a MinHash toolkit

article published in 2019

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

article

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

scientific article published on 06 April 2016

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

scientific article published on 24 January 2017

Whole-genome sequence-based analysis of thyroid function.

scientific article

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

article

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

scientific article published in 2018

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

scientific article

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

scientific article published on February 2017

Why sequence all eukaryotes?

scientific article published on 01 January 2022

WormBase 2007

scientific article

WormBase 2012: more genomes, more data, new website

scientific article

WormBase: Annotating many nematode genomes

scientific article published on January 2012

WormBase: a comprehensive data resource for Caenorhabditis biology and genomics

scientific article

WormBase: a comprehensive resource for nematode research

scientific article

WormBase: a cross-species database for comparative genomics

scientific article

WormBase: a multi-species resource for nematode biology and genomics

scientific article

WormBase: better software, richer content

scientific article

WormBase: network access to the genome and biology of Caenorhabditis elegans

scientific article

WormBase: new content and better access

scientific article

[19] Oscillation method with large unit cells

[X]uniqMAP: unique gene sequence regions in the human and mouse genomes

scientific article

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

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