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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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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

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Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

Genovese, G., Friedman, D. J., Ross, M. D., Lecordier, L., Uzureau, P., Freedman, B. I., Bowden, D. W., Langefeld, C. D., Oleksyk, T. K., Uscinski Knob, A. L., et al. (2010) · Science

Renal Diseases and GlomerulopathiesChronic Kidney Disease and Diabetes

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Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Mahajan, A., Taliun, D., Thurner, M., Robertson, N. R., Torres, J. M., Rayner, N. W., Payne, A. J., Steinthorsdottir, V., Scott, R. A., Grarup, N., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

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The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

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A structural variation reference for medical and population genetics

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Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

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Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

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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

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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Mahajan, A., Spracklen, C. N., Zhang, W., Ng, M. C. Y., Petty, L. E., Kitajima, H., Yu, G. Z., Rüeger, S., Speidel, L., Kim, Y. J., et al. (2022) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Suzuki, K., Hatzikotoulas, K., Southam, L., Taylor, H. J., Yin, X., Lorenz, K. M., Mandla, R., Huerta-Chagoya, A., Melloni, G. E. M., Kanoni, S., et al. (2024) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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β-Cell Failure in Type 2 Diabetes: Postulated Mechanisms and Prospects for Prevention and Treatment

Halban, P. A., Polonsky, K. S., Bowden, D. W., Hawkins, M. A., Ling, C., Mather, K. J., Powers, A. C., Rhodes, C. J., Sussel, L., & Weir, G. C. (2014) · Diabetes Care

Pancreatic function and diabetesDiabetes Treatment and Management

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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease

Chen, Y., Du, X., Kuppa, A., Feitosa, M. F., Bielak, L. F., O’Connell, J. R., Musani, S. K., Guo, X., Kahali, B., Chen, V. L., et al. (2023) · Nature Genetics

Liver Disease Diagnosis and TreatmentGenetic Associations and Epidemiology

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Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Rusu, V., Hoch, E., Mercader, J. M., Tenen, D. E., Gymrek, M., Hartigan, C. R., DeRan, M., von Grotthuss, M., Fontanillas, P., Spooner, A., et al. (2017) · Cell

Genetic Associations and EpidemiologyMetabolism, Diabetes, and Cancer

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Sleep Duration and Five-Year Abdominal Fat Accumulation in a Minority Cohort: The IRAS Family Study

Hairston, K. G., Bryer-Ash, M., Norris, J. M., Haffner, S., Bowden, D. W., & Wagenknecht, L. E. (2010) · Sleep

Sleep and related disordersSleep and Work-Related Fatigue

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A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

Wood, A. R., Jonsson, A., Jackson, A. U., Wang, N., van Leewen, N., Palmer, N. D., Kobes, S., Deelen, J., Boquete-Vilarino, L., Paananen, J., et al. (2017) · Diabetes

Genetic Associations and EpidemiologyPancreatic function and diabetes

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Heart rate-corrected QT interval is an independent predictor of all-cause and cardiovascular mortality in individuals with type 2 diabetes: the diabetes heart study

Cox, A. J., Azeem, A., Yeboah, J., Soliman, E. Z., Aggarwal, S. R., Bertoni, A. G., Carr, J. J., Freedman, B. I., Herrington, D. M., & Bowden, D. W. (2014) · Diabetes Care

Cardiac electrophysiology and arrhythmiasDiabetes, Cardiovascular Risks, and Lipoproteins

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Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

Natarajan, P., Bis, J. C., Bielak, L. F., Cox, A. J., Dörr, M., Feitosa, M. F., Franceschini, N., Guo, X., Hwang, S.-J., Isaacs, A., et al. (2016) · Circulation: Cardiovascular Genetics

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Transferability and Fine Mapping of Type 2 Diabetes Loci in African Americans

Ng, M. C. Y., Saxena, R., Li, J., Palmer, N. D., Dimitrov, L., Xu, J., Rasmussen-Torvik, L. J., Zmuda, J. M., Siscovick, D. S., Patel, S. R., et al. (2013) · Diabetes

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Sung, Y. J., de las Fuentes, L., Winkler, T. W., Chasman, D. I., Bentley, A. R., Kraja, A. T., Ntalla, I., Warren, H. R., Guo, X., Schwander, K., et al. (2019) · Human Molecular Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

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Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Cade, B. E., Lee, J., Sofer, T., Wang, H., Zhang, M., Chen, H., Gharib, S. A., Gottlieb, D. J., Guo, X., Lane, J. M., et al. (2021) · Genome Medicine

Obstructive Sleep Apnea ResearchGenetic Associations and Epidemiology

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