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A human binary protein interactome map that includes around 53,000 protein–protein interactions involving more than 8,000 proteins provides a reference for the study of human cellular function in health and disease.

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Genetic variants associated with susceptibility to pancreatic cancer have been identified using genome wide association studies (GWAS). Here, the authors combine data from over 9000 patients and perform a meta-analysis to identify five novel loci linked to pancreatic cancer.

Analysis of genomic networks from 430 modern individuals across 21 Pacific island populations reveals the human settlement history of Polynesia.

Contrary to the view that urbanization is a major driver of the global rise in obesity, the global increase in body-mass index is shown to be mostly due to increases in the body-mass indexes of rural populations.

Long non-coding RNAs (lncRNAs) play roles in key cellular processes, but remain largely unexplored in fungal pathogens such as Candida. Here, Hovhannisyan and Gabaldón analyze thousands of sequencing datasets to infer and characterize the lncRNA repertoires of five Candida species, paving the way for their future functional characterization.

Genome-wide analysis identifies 30 loci associated with bipolar disorder, allowing for comparisons of shared genes and pathways with other psychiatric disorders, including schizophrenia and depression.

Longitudinal genomic and transcriptomic profiling of 1,143 patients with multiple myeloma by the Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile study yields an improved copy number and gene expression subtype scheme, most notably a high-risk proliferative subtype associated with complete loss of RB1 or MAX.

Classical toxin–antitoxin systems in bacteria are based on silencing of a toxin by an antitoxin that, when inactivated, releases the toxin, resulting in a change in metabolism. Here, the authors characterize an oxygen-sensitive toxin–antitoxin system and discuss the implications for the role of the Hha antitoxin.

The Vertebrate Genome Project has used an optimized pipeline to generate high-quality genome assemblies for sixteen species (representing all major vertebrate classes), which have led to new biological insights.

Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca²⁺ transport and AMPAR currents.”

Polygenic risk scores for Alzheimer’s disease derived from individuals of European ancestry can show improved performance in multiancestry settings after incorporating genome-wide association summary statistics from diverse populations.

Comparative analysis of Y chromosomes across 29 primate species reveals rapid evolution and shows different patterns of evolution among regions of the Y chromosome during primate diversification.

Biological activity can be photoswitched by light-regulated drugs, but so far only diffusible ligands have been shown to work on endogenous receptors. Here the authors develop targeted covalent photoswitches that couple to a protein target by ligand affinity, and demonstrate photocontrol of GluK1-expressing neurons.

Using a Bayesian approach with neural networks the authors model the demographic history of gorillas, finding admixture from an archaic ‘ghost’ lineage into the common ancestor of eastern gorillas, but not western gorillas.

Decreased rates of recovery from perturbations, or critical slowing down, are demonstrated in a living system, indicating that recovery rates can be used to probe the resilience of complex systems.

Orphan transporters can be found in over 20 families in the SLC superfamily. Here, the authors show that human SLC22A10 is a unitary pseudogene due to a fixed missense mutation, P220; while in great apes, its orthologs transport sex steroid conjugates.

Here, the authors report the incidence of Clostridioides difficile infection (CDI) and assess potential clinical characteristics and biomarkers to predict CDI in 1,007 patients of 50 years and above receiving newly initiated antibiotic treatment.

There is currently no disease-modifying treatment for Parkinson’s disease, a common neurodegenerative disorder. Here, the authors use genetic variation associated with gene and protein expression to find putative drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome.

Fewer than 100 wild Cat Ba langurs survive in Vietnam. Here, the authors use whole genome sequencing to demonstrate potential adaptations to saltwater consumption as well as maintenance of adaptive potential despite low levels of genetic diversity and high levels of inbreeding.

The human hand can be distinguished from that of apes by its long thumb relative to fingers. Here the authors show that hand proportions vary greatly among ape species and that the human hand evolved from an ancestor that was more similar to humans than to chimpanzees.

The oxidation of water is essential to the sustainable production of fuels using sunlight or electricity, but designing active, stable and earth-abundant catalysts for the reaction is challenging. Now, a complex containing five iron atoms is shown to efficiently oxidize water by mimicking key features of the oxygen-evolving complex in green plants.

The cerebral cortex shows many similarities among species, whilst also enabling adaptations to a range of specific niches. By building a unified cerebral cortex map of ninety species, this study traces the intricate evolutionary history that links cortical morphology and its functional topography.

The genomes of two long-lived giant tortoises, including Lonesome George, reveal candidate genes and pathways associated with their development, gigantism and longevity.

RNA sequencing has enabled the global analysis of both gene expression levels and splicing events. Here, the authors develop a multivariate approach that is able to identify SNPs that influence splicing, and investigate the overlap of these with functional domains across the genome, including previously identified GWAS signals.

The contribution of anthropogenic forcing to rising sea levels during the industrial era remains uncertain. Here, the authors provide a probabilistic evaluation and show that at least 45% of global mean sea level rise is of anthropogenic origin.

Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

The invariant causal prediction (ICP) framework tries to determine the causal variables given an outcome variable, but considerable effort is needed to adapt existing ICP methods to the clinical domain. The authors propose an automated causal inference method that could potentially address the challenges of applying the ICP framework to complex clinical datasets.

Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.