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Cross-trait meta-analysis on 12 psychiatric disorders identifies the genetic overlap between pairs of disorders and highlights the challenges of cross-trait genetic research.
Multistage gene burden analysis in exome sequencing data from 32,558 individuals identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease.
De novo variants altering a conserved region in an intron of HK1 cause congenital hyperinsulinism by perturbing the activity of a putative cell type-specific regulatory element.
This study presents a method for constructing complex trait polygenic scores from rare variants and shows that a polygenic score combining common and rare variants improves the accuracy of diagnosis for type 2 diabetes based on hemoglobin A1C levels.
CRISPR editing of all 28 alleles encoding histones H3.1, H3.2 and H3.3 in mouse embryonic stem cells (mESCs) generates pan-H3K27R mutant mESCs, which are transcriptionally similar to PRC2-null mESCs. H3K27 acetylation is dispensable for gene derepression in mESCs and for gene activation in epiblast-like cells.
Chromosome-scale genome assembly of the South African bread wheat (Triticum aestivum) cultivar Kariega facilitates the cloning of the stripe rust resistance gene Yr27.
Genome-wide association analyses identify new susceptibility loci for Brugada syndrome. Functional studies implicate microtubule-related trafficking effects on sodium channel expression as an underlying molecular mechanism.
Common mutational analyses assume that every base in the genome can only mutate once. Here, the authors report multiple violations of this infinite sites model in whole-genome data across a range of tumor types.