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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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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

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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An Adoption Study of Human Obesity

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Genetic Associations and EpidemiologyObesity, Physical Activity, Diet

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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

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

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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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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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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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Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

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Genetic Associations and EpidemiologyDiabetes and associated disorders

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

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Genetic Associations and EpidemiologyGenomics and Rare Diseases

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Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

Estrada, K., Aukrust, I., Bjørkhaug, L., Burtt, N. P., Mercader, J. M., García-Ortiz, H., Huerta-Chagoya, A., Moreno-Macías, H., Walford, G., Flannick, J., et al. (2014) · JAMA

Genetic Associations and EpidemiologyDiabetes and associated disorders

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Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans

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Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans

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Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea–related Quantitative Trait Locus in Men

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Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans

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Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep

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GLYCOSYLATED HEMOGLOBIN DETERMINATION FROM CAPILLARY BLOOD SAMPLES

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Diabetes Management and ResearchDiabetes, Cardiovascular Risks, and Lipoproteins

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

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