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Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.

Olsen L, Sparsø T, Weinsheimer SM, et al. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. Lancet Psychiatry. 2018;5(7):573-580. doi:10.1016/S2215-0366(18)30168-8

Phenome-wide association studies across large population cohorts support drug target validation.

Diogo D, Tian C, Franklin CS, et al. Phenome-wide association studies across large population cohorts support drug target validation. Nat Commun. 2018;9(1):4285. doi:10.1038/s41467-018-06540-3

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, et al. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet. 2018;50(7):1048-1053. doi:10.1038/s41588-018-0143-7

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights.

Gusev A, Mancuso N, Won H, et al. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nat Genet. 2018;50(4):538-548. doi:10.1038/s41588-018-0092-1

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Gormley P, Kurki MI, Hiekkala ME, et al. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron. 2018;98(4):743-753.e4. doi:10.1016/j.neuron.2018.04.014

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

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.

Ganna A, Satterstrom K, Zekavat SM, et al. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018;102(6):1204-1211. doi:10.1016/j.ajhg.2018.05.002

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.

Evans LM, Tahmasbi R, Vrieze SI, et al. Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits. Nat Genet. 2018;50(5):737-745. doi:10.1038/s41588-018-0108-x

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018;360(6395). doi:10.1126/science.aap8757

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.

An JY, Lin K, Zhu L, et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018;362(6420). doi:10.1126/science.aat6576