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Genome-wide association meta-analyses in populations of East Asian and European ancestries identify variant–trait associations for 44 hippocampal traits and provide insight into the genetic architectures of hippocampal and subfield volumes.
Temporal activation of Hox genes in mouse pseudo-embryos in vitro initiates at the anterior part of the cluster and is accompanied by asymmetric loading of cohesin. Posterior CTCF sites then successively act as transient insulators, regulating the timed transcription of more posterior-located genes.
An exome-wide association study of six smoking phenotypes in up to 749,459 individuals identifies associations of rare coding variants in CHRNB2 that may reduce the likelihood of smoking.
A genome-wide association study of thoracic aortic aneurysms and dissections (TAAD) in the Million Veteran Program identifies 17 new risk loci and demonstrates that the genetic architecture of TAAD mirrors that of other complex traits.
Recurrent somatic mutations altering residues in the transmembrane domain of CADM1 are identified in aldosterone-producing adenomas. Follow-up studies implicate a role of gap junction communication in regulating aldosterone production.
Genome-wide association analyses of two oral glucose tolerance test-derived measures of postprandial insulin resistance discover ten new loci. Functional characterization identifies nine candidate genes implicated in the regulation of GLUT4.
Setaria pan-genome constructed using genome assemblies of 110 representative accessions and variation analyses provides insights into foxtail millet domestication and the genetic basis for crop improvement.
A mouse model of Down syndrome (DS) highlights the importance of triplication of the IFNR gene cluster for a variety of DS-associated traits. Copy number correction resulted in amelioration of multiple phenotypes associated with the condition.
Genome-wide studies of 1,916 plasma and urine metabolites from 5,023 participants of the German Chronic Kidney Disease study provide insights into systemic and kidney-specific enzymatic and transport processes.
Genome-wide association analyses identify risk loci for spontaneous coronary artery dissection and implicate arterial integrity and tissue-mediated coagulation in the disease etiology. Several risk variants show opposite effects on coronary artery disease risk.
Analysis of rare coding variants in the UK Biobank identifies eight genes associated with adult cognitive function, including KDM5B. Rare and common variant signals overlap and contribute additively to the phenotype.
Analyses of whole-genome and RNA sequencing data from 2,733 African American, Puerto Rican and Mexican American individuals reveal ancestry-specific patterns in the genetic architecture of whole-blood gene expression.
Single-cell multiomic and functional characterization of human pancreatic islets identifies two beta cell subtypes correlated with type 2 diabetes progression that exhibit distinct gene regulatory programs and electrophysiological phenotypes.
MEGAnE is a new tool to detect and genotype mobile element variants (MEVs) from short-read whole-genome sequencing datasets. Genetic analyses implicate MEVs as population-specific drivers of gene expression variation and disease risk.
Genomic and transcriptomic analysis of 470 mostly high-risk neuroblastomas collected from 283 patients delineates subtype-specific evolutionary patterns and progression-related convergent evolution and describes the clonal dynamics of metastases.
A pan-cancer analysis of primary and metastatic tumors highlights the diversity of genetic immune escape mechanisms established during tumor evolution. The authors also present LILAC, a tool to characterize the HLA-I locus from whole-genome sequencing data.
Genome-wide association analyses across individuals of East Asian and European ancestries identify new risk loci for inflammatory bowel diseases. A polygenic risk score derived from the combined datasets shows improved prediction accuracy.
ARG-Needle is a method to infer genome-wide genealogies from large-scale genotyping data that can be used in association analyses. Applied to UK Biobank data, genealogy-based testing finds more trait associations than using imputed genotypes.
Peripheral blood mononuclear cells from 73 Japanese patients with coronavirus disease 2019 (COVID-19) and 75 healthy controls were analyzed using single-cell transcriptomics. Combining these data with genotyping data highlights the interplay between host genetics and the immune response in modulating disease severity.