Durbin, Richard

Common genetic variation drives molecular heterogeneity in human iPSCs

Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, F. P., Culley, O. J., et al. (2017) · Nature

Pluripotent Stem Cells ResearchGenetic Associations and Epidemiology

Cited by 586

Sequence locally, think globally: the Darwin Tree of Life Project

The Darwin Tree of Life Project Consortium, Blaxter, M., Mieszkowska, N., Di Palma, F., Holland, P., Durbin, R., Richards, T., Berriman, M., Kersey, P., Hollingsworth, P., et al. (2022) · Proceedings of the National Academy of Sciences

Genomics and Phylogenetic StudiesEnvironmental DNA in Biodiversity Studies

Cited by 562

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

Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., Albrechtsen, A., Valdiosera, C., Ávila-Arcos, M. C., Malaspinas, A.-S., et al. (2015) · Science

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 540

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

Heaton, H., Talman, A. M., Knights, A., Imaz, M., Gaffney, D. J., Durbin, R., Hemberg, M., & Lawniczak, M. K. N. (2020) · Nature Methods

Single-cell and spatial transcriptomicsGenomics and Phylogenetic Studies

Cited by 506

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

Stegle, O., Parts, L., Durbin, R., & Winn, J. (2010) · PLoS Computational Biology

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 497

Patterns of Cis Regulatory Variation in Diverse Human Populations

Stranger, B. E., Montgomery, S. B., Dimas, A. S., Parts, L., Stegle, O., Ingle, C. E., Sekowska, M., Smith, G. D., Evans, D., Gutierrez-Arcelus, M., et al. (2012) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 470

Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

Grundberg, E., Meduri, E., Sandling, J. K., Hedman, Å. K., Keildson, S., Buil, A., Busche, S., Yuan, W., Nisbet, J., Sekowska, M., et al. (2013) · The American Journal of Human Genetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 370

TreeFam: 2008 update

Ruan, J., Li, H., Chen, Z., Coghlan, A., Coin, L. J. M., Guo, Y., Heriche, J.-K., Hu, Y., Kristiansen, K., Li, R., et al. (2007) · Nucleic Acids Research

Genomics and Phylogenetic StudiesBioinformatics and Genomic Networks

Cited by 332

Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Cuomo, A. S. E., Seaton, D. D., McCarthy, D. J., Martinez, I., Bonder, M. J., Garcia-Bernardo, J., Amatya, S., Madrigal, P., Isaacson, A., Buettner, F., et al. (2020) · Nature Communications

Pluripotent Stem Cells ResearchSingle-cell and spatial transcriptomics

Cited by 331

Health and population effects of rare gene knockouts in adult humans with related parents

Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 286

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

Lilue, J., Doran, A. G., Fiddes, I. T., Abrudan, M., Armstrong, J., Bennett, R., Chow, W., Collins, J., Collins, S., Czechanski, A., et al. (2018) · Nature Genetics

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 267

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians

Pagani, L., Schiffels, S., Gurdasani, D., Danecek, P., Scally, A., Chen, Y., Xue, Y., Haber, M., Ekong, R., Oljira, T., et al. (2015) · The American Journal of Human Genetics

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 216

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

Levine, A., & Durbin, R. (2001) · Nucleic Acids Research

RNA Research and SplicingRNA and protein synthesis mechanisms

Cited by 142

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

Martiniano, R., Garrison, E., Jones, E. R., Manica, A., & Durbin, R. (2020) · Genome Biology

Genomics and Phylogenetic StudiesForensic and Genetic Research

Cited by 128

Detecting archaic introgression using an unadmixed outgroup

Skov, L., Hui, R., Shchur, V., Hobolth, A., Scally, A., Schierup, M. H., & Durbin, R. (2018) · PLoS Genetics

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

Cited by 125

Mapping Trait Loci by Use of Inferred Ancestral Recombination Graphs

Minichiello, M. J., & Durbin, R. (2006) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 115

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

Rouhani, F. J., Zou, X., Danecek, P., Badja, C., Amarante, T. D., Koh, G., Wu, Q., Memari, Y., Durbin, R., Martincorena, I., et al. (2022) · Nature Genetics

Pluripotent Stem Cells ResearchCRISPR and Genetic Engineering

Cited by 105

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Haplotype-aware graph indexes

Sirén, J., Garrison, E., Novak, A. M., Paten, B., & Durbin, R. (2020) · Bioinformatics

Algorithms and Data CompressionGenomics and Phylogenetic Studies

Cited by 92

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 49

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

Vigilante, A., Laddach, A., Moens, N., Meleckyte, R., Leha, A., Ghahramani, A., Culley, O. J., Kathuria, A., Hurling, C., Vickers, A., et al. (2019) · Cell Reports

Pluripotent Stem Cells ResearchSingle-cell and spatial transcriptomics

Cited by 34

A structured coalescent model reveals deep ancestral structure shared by all modern humans

Cousins, T., Scally, A., & Durbin, R. (2025) · Nature Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 27

Phylogenomics of Cypriniformes, the most diverse order of freshwater fishes: consensus, challenges and limitations

Sudasinghe, H., Britz, R., Matschiner, M., Conway, K. W., Tan, H. H., Kottelat, M., Raghavan, R., Dahanukar, N., Anoop, V. K., Bohlen, J., et al. (2026) · Molecular Biology and Evolution

Fish Biology and Ecology StudiesGenomics and Phylogenetic Studies

Cited by 8