Bustamante, Carlos D.

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,496

Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,064

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Ioannidis, N. M., Rothstein, J. H., Pejaver, V., Middha, S., McDonnell, S. K., Baheti, S., Musolf, A., Li, Q., Holzinger, E., Karyadi, D., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 2,908

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., et al. (2021) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 2,213

Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data

Gutenkunst, R. N., Hernandez, R. D., Williamson, S. H., & Bustamante, C. D. (2009) · PLoS Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,906

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,613

ClinGen — The Clinical Genome Resource

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 1,496

Genes mirror geography within Europe

Novembre, J., Johnson, T., Bryc, K., Kutalik, Z., Boyko, A. R., Auton, A., Indap, A., King, K. S., Bergmann, S., Nelson, M. R., et al. (2008) · Nature

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,479

Evolutionary and biomedical insights from the rhesus macaque genome.

Gibbs, R. A., Rogers, J., Katze, M. G., Bumgarner, R., Weinstock, G. M., Mardis, E. R., Remington, K. A., Strausberg, R. L., Venter, J. C., Wilson, R. K., et al. (2007) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 1,403

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,391

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Genetic analyses of diverse populations improves discovery for complex traits

Wojcik, G. L., Graff, M., Nishimura, K. K., Tao, R., Haessler, J., Gignoux, C. R., Highland, H. M., Patel, Y. M., Sorokin, E. P., Avery, C. L., et al. (2019) · Nature

Genetic Associations and EpidemiologyRace, Genetics, and Society

Cited by 1,033

RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference

Maples, B. K., Gravel, S., Kenny, E. E., & Bustamante, C. D. (2013) · The American Journal of Human Genetics

Forensic and Genetic ResearchGenetic Associations and Epidemiology

Cited by 900

Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds

The Bovine HapMap Consortium, Gibbs, R. A., Taylor, J. F., Van Tassell, C. P., Barendse, W., Eversole, K. A., Gill, C. A., Green, R. D., Hamernik, D. L., Kappes, S. M., et al. (2009) · Science

Genetic and phenotypic traits in livestockGenetic Mapping and Diversity in Plants and Animals

Cited by 868

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs

Mosher, D. S., Quignon, P., Bustamante, C. D., Sutter, N. B., Mellersh, C. S., Parker, H. G., & Ostrander, E. A. (2007) · PLoS Genetics

Genetic and phenotypic traits in livestockGenetics and Physical Performance

Cited by 826

An aboriginal Australian genome reveals separate human dispersals into Asia

Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K. E., Rasmussen, S., Albrechtsen, A., Skotte, L., Lindgreen, S., Metspalu, M., Jombart, T., et al. (2011) · Science

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 787

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature

Acute Myeloid Leukemia ResearchGenetic Associations and Epidemiology

Cited by 733

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

Assessing the evolutionary impact of amino acid mutations in the human genome.

Boyko, A. R., Williamson, S. H., Indap, A. R., Degenhardt, J. D., Hernandez, R. D., Lohmueller, K. E., Adams, M. D., Schmidt, S., Sninsky, J. J., Sunyaev, S. R., et al. (2008) · PLoS Genetics

Evolution and Genetic DynamicsForensic and Genetic Research

Cited by 628

Genome sequencing highlights the dynamic early history of dogs

Freedman, A. H., Gronau, I., Schweizer, R. M., Ortega-Del Vecchyo, D., Han, E., Silva, P. M., Galaverni, M., Fan, Z., Marx, P., Lorente-Galdos, B., et al. (2014) · PLoS Genetics

Human-Animal Interaction StudiesGenetic diversity and population structure

Cited by 624

Patterns of Positive Selection in Six Mammalian Genomes

Kosiol, C., Vinař, T., da Fonseca, R. R., Hubisz, M. J., Bustamante, C. D., Nielsen, R., & Siepel, A. (2008) · PLoS Genetics

Evolution and Genetic DynamicsGenomics and Phylogenetic Studies

Cited by 576