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Systematic analysis of highly rearranged balancer chromosomes in Drosophila shows that extensive changes to chromatin topology affect the expression of only a subset of genes.
Genome-wide analyses identify eight independent loci associated with anorexia nervosa. Genetic correlations implicate both psychiatric and metabolic components in the etiology of this disorder, even after adjusting for the effects of common variants associated with body mass index.
Multi-region sequencing of 35 primary uveal melanomas and their matched metastases yields new insights into the genetics and evolution of these tumors and provides potential biomarkers for progression and therapy.
Application of SuRE reporter technology to survey the effect of 5.9 million SNPs in the human genome on enhancer and promoter activity identifies over 30,000 SNPs that alter the activity of putative regulatory elements.
Comprehensive CRISPR mutagenesis targeting all members of the NuRD complex identifies a specific subcomplex required for fetal globin silencing and informs a rational targeting strategy for elevating globin levels while avoiding cytotoxicity.
A genetics-led translational approach integrating functional genomic predictors, knowledge of network connectivity and immune ontologies defines the drug target prioritization landscape for 30 immune traits at the gene and pathway level.
Promoter capture Hi-C maps in human pancreatic islets identify more than 1,300 three-dimensional regulatory hubs, linking diabetes-associated enhancers to their target genes. Genetic variation in hubs impacts insulin secretion heritability.
Whole-genome sequencing and association analysis of 270 Epstein–Barr virus (EBV) isolates from China identify two non-synonymous EBV variants within BALF2 that are strongly associated with the risk of nasopharyngeal carcinoma.
Analysis of evolutionary dynamics of colorectal cancers and paired distant brain or liver metastases provides evidence that early disseminated cancer cells seed metastases before the carcinoma is clinically detectable.
The authors present a method for determining 3D protein structures using high-throughput mutation experiments. Pairs of residues with the largest positive epistasis are sufficient to determine the 3D fold.
This method predicts three-dimensional protein structures based on the activity of mutant variants. The approach relies on quantifying genetic interactions between mutations to infer direct contacts between residues.
Analysis of whole-exome sequencing data from 2,343 individuals with autism spectrum disorder compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants.
Genetic studies using map-based cloning, gene editing, RNA interference, haplotyping and association analyses identify a deletion in TaHRC as a key determinant of Fhb1-mediated resistance to Fusarium head blight in wheat.
Genetic mapping and functional studies show that mutation of a histidine-rich calcium-binding-protein gene at the Fhb1 locus confers resistance to Fusarium head blight in wheat. Notably, transgenic plants expressing the R allele show enhanced resistance to infection.
The authors present a high-throughput single-cell ChIP-seq method with coverage of up to 10,000 loci per cell. They identify diverse chromatin landscapes in breast cancer cells characterized by dynamic H3K27me3 levels.
Trans-ancestry meta-analysis of estimated glomerular filtration rate (eGFR) from 1,046,070 individuals identifies 264 associated loci, providing a resource of molecular targets for translational research of chronic kidney disease.
A high-quality reference genome of the maize SK inbred line and analyses between the tropical SK line and two other maize genomes, B73 and Mo17, provide insights into structural variation and crop improvement.
Phosphorylation of histone H3.3 at serine 31 by CHK1 is shown to stimulate activity of the acetyltransferase p300 in trans. Depletion of histone H3.3 in embryonic stem cells reduces enhancer acetylation during differentiation.
The authors generate Dux cluster knockout mouse lines and find that embryos can survive to adulthood. Transcriptome profiling of the mutant embryos indicates minimal effects on zygotic genome activation.
Similarity regression is an improved method for predicting transcription factor motifs, enabling analysis of DNA-binding motifs across eukaryotes and an expansion of the Cis-BP database of measured and predicted transcription factor motifs.