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Genome-wide analyses in >1 million individuals identify new loci and pathways associated with insomnia. The findings implicate key brain areas and cell types in the neurobiology of insomnia and highlight potential targets for developing new treatments.
Chromosome-scale assembly for the cultivated octoploid strawberry (Fragaria × ananassa) uncovers the origin and evolutionary processes that shaped this complex allopolyploid, providing a useful resource for genome-wide analyses and molecular breeding.
A genome-wide association study in more than 400,000 individuals identifies 139 new signals for lung function. These variants can predict chronic obstructive pulmonary disease in independent, transancestral cohorts.
A genome-wide-association meta-analysis of 18,381 austim spectrum disorder (ASD) cases and 27,969 controls identifies five risk loci. The authors find quantitative and qualitative polygenic heterogeneity across ASD subtypes.
scRepli-seq measures DNA replication timing in single cells on the basis of copy number. Applying haplotype-resolved scRepli-seq to mESCs establishes basic principles of replication-timing conservation and heterogeneity among populations of cells.
Genome-wide analysis of chronic obstructive pulmonary disease identifies 82 loci, 35 of which are new. Integration of gene expression and genomic annotation data shows enrichment of signals in lung tissue, smooth muscle and several lung cell types.
This study presents the genomes of 2,101 emm28 Streptococcus pyogenes invasive strains, of which 492 were transcriptionally profiled, and 50 were assessed for virulence. GWAS, eQTL analysis, and study of isogenic mutant strains identified an intergenic region that alters global transcript profiles and bacterial virulence.
A transancestral exome-wide association study for body-fat distribution identifies protein-coding variants that are significantly associated with waist-to-hip ratio adjusted for body mass index.
Fate-mapping and clonal analysis show that bronchioalveolar stem cells (BASCs) become activated and respond distinctly to different lung injuries and differentiate into multiple cell types. Single-cell RNA-seq analysis identifies new BASC markers.
Genomic analysis of 551 esophageal adenocarcinomas identifies new driver mutations and biomarkers associated with poor prognosis. More than 50% of esophageal adenocarcinomas contain sensitizing events for CDK4/CDK6 inhibitors, thus providing an evidence base for targeted therapeutics.
Oncogenic gain-of-function EZH2 mutations alter gene–promoter interactions and lead to silencing 1,034 of genes within topologically associating domains, thus resulting in inactivation of multiple tumor-suppressor genes.
Sequencing of the MHC region in the Japanese population provides insight into population-specific allelic and structural variability. These data enable discovery and fine-mapping of genotype–phenotype associations across 52 phenotypes.
Genome-wide-association analyses of datasets from Iceland and the UK identify risk variants for nasal polyps and chronic rhinosinusitis. Notably, a loss-of-function missense variant in ALOX15 confers protection against both phenotypes, thus identifying a potential target for therapeutic intervention.
Relocalization of one X-inactivation center (Xic) to the nuclear lamina does not influence choice between the two Xics at the onset of X-chromosome inactivation. Tethering of both Xics to the nuclear lamina reduces Xic pairing but does not affect monoallelic Xist upregulation.
Analysis of 1,988 cases of B-cell acute lymphoblastic leukemia characterizes 23 subtypes defined by genomic features and shows that two of the subtypes have frequent PAX5 alterations.
Analysis of signatures of hypoxia in more than 8,000 tumors from 19 cancer types identifies hypoxia-driven mutation signatures and dysregulation of microRNAs.
A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.
New methods for multivariate genome-wide-association meta-analysis (GWAMA) applied to four well-being spectrum traits identifies 304 association loci, representing a 26% increase in the number of signals, as compared with four univariate analyses.
Genome-wide meta-analysis of clinically diagnosed Alzheimer’s disease (AD) and AD-by-proxy (71,880 AD cases, 383,378 controls) identifies new loci and functional pathways that contribute to AD risk.