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Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations.

Gazal S, Loh PR, Finucane HK, et al. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet. 2018;50(11):1600-1607. doi:10.1038/s41588-018-0231-8

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Emdin CA, Khera AV, Chaffin M, et al. Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nat Commun. 2018;9(1):1613. doi:10.1038/s41467-018-03911-8

Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation.

Strawbridge RJ, Silveira A, Hoed M den, et al. Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation. Atherosclerosis. 2017;266:196-204. doi:10.1016/j.atherosclerosis.2017.09.031

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.

Martin J, Walters RK, Demontis D, et al. A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry. 2018;83(12):1044-1053. doi:10.1016/j.biopsych.2017.11.026

Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III).

Grimsby JL, Porneala BC, Vassy JL, et al. Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III). BMC Med Genet. 2012;13:30. doi:10.1186/1471-2350-13-30

Whole-genome association study of bipolar disorder.

Sklar P, Smoller JW, Fan J, et al. Whole-genome association study of bipolar disorder. Mol Psychiatry. 2008;13(6):558-69. doi:10.1038/sj.mp.4002151

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

Flannick J, Mercader JM, Fuchsberger C, et al. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. 2019;570(7759):71-76. doi:10.1038/s41586-019-1231-2

Statistics for X-chromosome associations.

Özbek U, Lin HM, Lin Y, et al. Statistics for X-chromosome associations. Genet Epidemiol. 2018;42(6):539-550. doi:10.1002/gepi.22132

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Xue Y, Mezzavilla M, Haber M, et al. Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations. Nat Commun. 2017;8:15927. doi:10.1038/ncomms15927

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X, Peloso GM, Liu DJ, et al. Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease. Nat Genet. 2017;49(12):1722-1730. doi:10.1038/ng.3978