Sunyaev, Shamil R.

A method and server for predicting damaging missense mutations.

Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods

Genomics and Rare DiseasesCancer Genomics and Diagnostics

Cited by 13,194

Integrative analysis of 111 reference human epigenomes

Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 6,368

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

Cited by 5,461

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., et al. (2012) · Science

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 3,716

Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Adzhubei, I., Jordan, D. M., & Sunyaev, S. R. (2013) · Current Protocols in Human Genetics

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 3,705

The accessible chromatin landscape of the human genome

Thurman, R. E., Rynes, E., Humbert, R., Vierstra, J., Maurano, M. T., Haugen, E., Sheffield, N. C., Stergachis, A. B., Wang, H., Vernot, B., et al. (2012) · Nature

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 2,679

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,734

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

The mystery of missing heritability: Genetic interactions create phantom heritability

Zuk, O., Hechter, E., Sunyaev, S. R., & Lander, E. S. (2012) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 1,542

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

Genomic variation landscape of the human gut microbiome

Schloissnig, S., Arumugam, M., Sunagawa, S., Mitreva, M., Tap, J., Zhu, A., Waller, A., Mende, D. R., Kultima, J. R., Martin, J., et al. (2013) · Nature

Gut microbiota and healthGenomics and Phylogenetic Studies

Cited by 907

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

Price, A. L., Kryukov, G. V., de Bakker, P. I. W., Purcell, S. M., Staples, J., Wei, L.-J., & Sunyaev, S. R. (2010) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 755

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 650

Searching for missing heritability: Designing rare variant association studies

Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 635

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

Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies

Kryukov, G. V., Pennacchio, L. A., & Sunyaev, S. R. (2007) · The American Journal of Human Genetics

Evolution and Genetic DynamicsGenomics and Rare Diseases

Cited by 598

Widespread macromolecular interaction perturbations in human genetic disorders

Sahni, N., Yi, S., Taipale, M., Fuxman Bass, J. I., Coulombe-Huntington, J., Yang, F., Peng, J., Weile, J., Karras, G. I., Wang, Y., et al. (2015) · Cell

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 594

Genome sequencing reveals insights into physiology and longevity of the naked mole rat

Kim, E. B., Fang, X., Fushan, A. A., Huang, Z., Lobanov, A. V., Han, L., Marino, S. M., Sun, X., Turanov, A. A., Yang, P., et al. (2011) · Nature

Genetics, Aging, and Longevity in Model OrganismsGenomics and Phylogenetic Studies

Cited by 576

Cell-of-origin chromatin organization shapes the mutational landscape of cancer

Polak, P., Karlić, R., Koren, A., Thurman, R., Sandstrom, R., Lawrence, M. S., Reynolds, A., Rynes, E., Vlahoviček, K., Stamatoyannopoulos, J. A., et al. (2015) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 557

Exome sequencing and the genetic basis of complex traits

Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., et al. (2012) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 372

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W. K., Hirschhorn, J. N., Daly, M. J., Patterson, N., et al. (2018) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 360

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W., Hirschhorn, J., Daly, M. J., Patterson, N., et al. (2019) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 359

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

Gorlov, I. P., Gorlova, O. Y., Sunyaev, S. R., Spitz, M. R., & Amos, C. I. (2008) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 338

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 299