Durbin, Richard

The Sequence Alignment/Map format and SAMtools

Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 62,041

Fast and accurate short read alignment with Burrows-Wheeler transform

Li, H., & Durbin, R. (2009) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 58,607

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature

Genomics and Phylogenetic StudiesGenetic Associations and Epidemiology

Cited by 24,216

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

Li, H., & Durbin, R. (2010) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 12,063

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 3,684

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 3,136

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

Rhie, A., McCarthy, S. A., Fedrigo, O., Damas, J., Formenti, G., Koren, S., Uliano-Silva, M., Chow, W., Fungtammasan, A., Kim, J., et al. (2021) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 3,097

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

Rhie, A., McCarthy, S. A., Fedrigo, O., Damas, J., Formenti, G., Koren, S., Uliano-Silva, M., Chow, W., Fungtammasan, A., Gedman, G. L., et al. (2020) · Nature

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 3,097

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

Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 2,638

Inference of human population history from individual whole-genome sequences

Li, H., & Durbin, R. (2011) · Nature

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 2,590

YaHS: yet another Hi-C scaffolding tool

Zhou, C., McCarthy, S. A., & Durbin, R. (2023) · Bioinformatics

Genomics and Phylogenetic StudiesGenomics and Chromatin Dynamics

Cited by 2,440

Reference-based phasing using the Haplotype Reference Consortium panel

Loh, P.-R., Danecek, P., Palamara, P. F., Fuchsberger, C., A Reshef, Y., K Finucane, H., Schoenherr, S., Forer, L., McCarthy, S., Abecasis, G. R., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 1,723

Mouse genomic variation and its effect on phenotypes and gene regulation.

Keane, T. M., Goodstadt, L., Danecek, P., White, M. A., Wong, K., Yalcin, B., Heger, A., Agam, A., Slater, G., Goodson, M., et al. (2011) · Nature

Genetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

Cited by 1,580

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

Schneider, V. A., Graves-Lindsay, T., Howe, K., Bouk, N., Chen, H.-C., Kitts, P. A., Murphy, T. D., Pruitt, K. D., Thibaud-Nissen, F., Albracht, D., et al. (2017) · Genome Research

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 1,193

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

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

Stegle, O., Parts, L., Piipari, M., Winn, J., & Durbin, R. (2012) · Nature Protocols

Genetic Associations and EpidemiologyGene expression and cancer classification

Cited by 1,049

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

Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., et al. (2020) · Science

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,020

Earth BioGenome Project: Sequencing life for the future of life

Lewin, H. A., Robinson, G. E., Kress, W. J., Baker, W. J., Coddington, J., Crandall, K. A., Durbin, R., Edwards, S. V., Forest, F., Gilbert, M. T. P., et al. (2018) · Proceedings of the National Academy of Sciences

Genomics and Phylogenetic StudiesEnvironmental DNA in Biodiversity Studies

Cited by 962

The diploid genome sequence of an Asian individual

Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., et al. (2008) · Nature

Genomics and Phylogenetic StudiesForensic and Genetic Research

Cited by 924

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

Garrison, E., Sirén, J., Novak, A. M., Hickey, G., Eizenga, J. M., Dawson, E. T., Jones, W., Garg, S., Markello, C., Lin, M. F., et al. (2018) · Nature Biotechnology

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 821

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

Eilbeck, K., Lewis, S. E., Mungall, C. J., Yandell, M., Stein, L., Durbin, R., & Ashburner, M. (2005) · Genome Biology

Biomedical Text Mining and OntologiesGenomics and Phylogenetic Studies

Cited by 806

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

The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Grundberg, E., Small, K. S., Hedman, Å. K., Nica, A. C., Buil, A., Keildson, S., Bell, J. T., Yang, T.-P., Meduri, E., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 729

A genomic history of Aboriginal Australia

Malaspinas, A.-S., Westaway, M. C., Muller, C., Sousa, V. C., Lao, O., Alves, I., Bergström, A., Athanasiadis, G., Cheng, J. Y., Crawford, J. E., et al. (2016) · Nature

Forensic and Genetic ResearchAustralian Indigenous Culture and History

Cited by 650

Revising the human mutation rate: implications for understanding human evolution

Scally, A., & Durbin, R. (2012) · Nature Reviews Genetics

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 610