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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 advanced cancer patients treated with immune-checkpoint inhibitors shows that tumor mutational burden, as assessed by targeted next-generation sequencing, predicts survival after immunotherapy across multiple cancer types.
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.
Analysis of a health insurance dataset comprising more than 44 million individuals allows for the estimation of genetic and environmental contributions in 560 phenotypes by using twins and sibling pairs.
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.
Graph Genome Pipeline is a read-alignment and variant-calling pipeline based on graph genomes that offers improved read-mapping and variant-calling accuracy while achieving speed comparable to those of linear reference genome pipelines.
Genomic analysis of 151 diploid potatoes and three potato populations produced by self-crossing identifies 344,831 deleterious substitutions and 15 genomic regions with severe segregation distortions, providing the basis for genome design of potato inbred lines.
GADD45A directly binds to R-loops and mediates local DNA demethylation by recruiting TET1. lncRNA-mediated formation of R-loops at the promoter of the tumor suppressor TCF21 triggers GADD45A binding, demethylation and expression.
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.