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Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles

Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences

Bioinformatics and Genomic NetworksGene expression and cancer classification

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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

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Integrative genomics viewer

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Genomics and Phylogenetic StudiesRNA Research and Splicing

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Molecular classification of cancer: class discovery and class prediction by gene expression monitoring

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Gene expression and cancer classificationBreast Cancer Treatment Studies

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PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

Mootha, V. K., Lindgren, C. M., Eriksson, K.-F., Subramanian, A., Sihag, S., Lehar, J., Puigserver, P., Carlsson, E., Ridderstråle, M., Laurila, E., et al. (2003) · Nature Genetics

Bioinformatics and Genomic NetworksMetabolism, Diabetes, and Cancer

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A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

Rao, S. S. P., Huntley, M. H., Durand, N. C., Stamenova, E. K., Bochkov, I. D., Robinson, J. T., Sanborn, A. L., Machol, I., Omer, A. D., Lander, E. S., et al. (2014) · Cell

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

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Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

Lieberman-Aiden, E., van Berkum, N. L., Williams, L., Imakaev, M., Ragoczy, T., Telling, A., Amit, I., Lajoie, B. R., Sabo, P. J., Dorschner, M. O., et al. (2009) · Science

Genomics and Chromatin DynamicsChromosomal and Genetic Variations

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The International HapMap Project

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Genetic Associations and EpidemiologyForensic and Genetic Research

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The Structure of Haplotype Blocks in the Human Genome

Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science

Genetic Associations and EpidemiologyForensic and Genetic Research

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Development and Applications of CRISPR-Cas9 for Genome Engineering

Hsu, P. D., Lander, E. S., & Zhang, F. (2014) · Cell

CRISPR and Genetic EngineeringRNA regulation and disease

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Mutational heterogeneity in cancer and the search for new cancer-associated genes

Lawrence, M. S., Stojanov, P., Polak, P., Kryukov, G. V., Cibulskis, K., Sivachenko, A., Carter, S. L., Stewart, C., Mermel, C. H., Roberts, S. A., et al. (2013) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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A bivalent chromatin structure marks key developmental genes in embryonic stem cells

Bernstein, B. E., Mikkelsen, T. S., Xie, X., Kamal, M., Huebert, D. J., Cuff, J., Fry, B., Meissner, A., Wernig, M., Plath, K., et al. (2006) · Cell

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

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The Connectivity Map: Using Gene-Expression Signatures to Connect Small Molecules, Genes, and Disease

Lamb, J., Crawford, E. D., Peck, D., Modell, J. W., Blat, I. C., Wrobel, M. J., Lerner, J., Brunet, J.-P., Subramanian, A., Ross, K. N., et al. (2006) · Science

Computational Drug Discovery MethodsBioinformatics and Genomic Networks

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A draft sequence of the Neandertal genome

Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science

Pleistocene-Era Hominins and ArchaeologyForensic and Genetic Research

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Genome-wide maps of chromatin state in pluripotent and lineage-committed cells

Mikkelsen, T. S., Ku, M., Jaffe, D. B., Issac, B., Lieberman, E., Giannoukos, G., Alvarez, P., Brockman, W., Kim, T.-K., Koche, R. P., et al. (2007) · Nature

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

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Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals

Guttman, M., Amit, I., Garber, M., French, C., Lin, M. F., Feldser, D., Huarte, M., Zuk, O., Carey, B. W., Cassady, J. P., et al. (2009) · Nature

Cancer-related molecular mechanisms researchGenomics and Chromatin Dynamics

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The landscape of somatic copy-number alteration across human cancers

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Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

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Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

Genovese, G., Kähler, A. K., Handsaker, R. E., Lindberg, J., Rose, S. A., Bakhoum, S. F., Chambert, K., Mick, E., Neale, B. M., Fromer, M., et al. (2014) · New England Journal of Medicine

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

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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

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Genomic classification of cutaneous melanoma

Akbani, R., Akdemir, K. C., Aksoy, B. A., Albert, M., Ally, A., Amin, S. B., Arachchi, H., Arora, A., Auman, J. T., Ayala, B., et al. (2015) · Cell

Melanoma and MAPK PathwaysCutaneous Melanoma Detection and Management

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Discovery and saturation analysis of cancer genes across 21 tumour types

Lawrence, M. S., Stojanov, P., Mermel, C. H., Robinson, J. T., Garraway, L. A., Golub, T. R., Meyerson, M., Gabriel, S. B., Lander, E. S., & Getz, G. (2014) · Nature

Cancer Genomics and DiagnosticsGenomics and Rare Diseases

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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

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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

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Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

Khera, A. V., Chaffin, M., Aragam, K. G., Haas, M. E., Roselli, C., Choi, S. H., Natarajan, P., Lander, E. S., Lubitz, S. A., Ellinor, P. T., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

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