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Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

Analysis of cancer genome sequencing data has enabled the discovery of driver mutations. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium the authors present DriverPower, a software package that identifies coding and non-coding driver mutations within cancer whole genomes via consideration of mutational burden and functional impact evidence.

Many tumours exhibit hypoxia (low oxygen) and hypoxic tumours often respond poorly to therapy. Here, the authors quantify hypoxia in 1188 tumours from 27 cancer types, showing elevated hypoxia links to increased mutational load, directing evolutionary trajectories.

Multi-omics datasets pose major challenges to data interpretation and hypothesis generation owing to their high-dimensional molecular profiles. Here, the authors develop ActivePathways method, which uses data fusion techniques for integrative pathway analysis of multi-omics data and candidate gene discovery.

The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet-base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

Before they were touted as invisibility cloaks, metamaterials promised a perfect lens. Geoff Brumfiel reports on the struggle for superior vision.

Genome-wide data for the three oldest known modern human remains in Europe, dated to around 45,000 years ago, shed light on early human migrations in Europe and suggest that mixing with Neanderthals was more common than is often assumed.

The global spread of nuclear weapons is once again a major headache for world leaders. Geoff Brumfiel reports on efforts to put the genie back in the bottle.

US nuclear weapons scientists are designing a warhead that is meant to be ‘reliable’ without ever having been tested. Geoff Brumfiel asks whether it could renew the United States' ageing stockpile.

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Direct dates for human remains found in association with Initial Upper Palaeolithic artefacts at Bacho Kiro Cave (Bulgaria) demonstrate the presence of Homo sapiens in the mid-latitudes of Europe before 45 thousand years ago.

The diamondback moth, Plutella xylostella is a cosmopolitan agricultural pest. By analyzing 532 genomes from 114 populations around the world, the authors find evidence supporting a South American origin of this moth, and look for signatures of positive selection.

Commitment to cut nuclear stockpiles may improve collaboration.

Identification of response biomarkers is a key step towards the development of personalised care. Here, Jayson et al. identify plasma Tie2 as a biomarker for the response of the tumor vasculature to anti-angiogenics in patients with metastatic colorectal cancer, suggesting that monitoring Tie2 levels may help guide therapy in the clinics.

An investigation using various methods reports an association between adeno-associated virus 2 and paediatric hepatitis of unknown aetiology.

Horizontal gene transfer could stabilize cooperation in bacteria because plasmids could promote the transfer of genes encoding public goods. However, the authors use comparative analysis and theoretical modelling to show that, while horizontal gene transfer may help cooperative genes invade a population initially, they have less of a role in long-term maintenance of cooperation.

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.

A genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.

The authors present palaeoclimatic data in the form of stable isotope records from equid teeth spanning 12,500 years of human occupation at the site of Ilsenhöhle in Ranis, Germany, including the earliest occupation of the site by Homo sapiens ~45,000 years ago.

Most testicular germ-cell tumours are exquisitely sensitive to platinum-based chemotherapies, but little is known about why 10% are resistant. Here, the authors explore the potential underlying mechanisms by probing the genomic landscape of platinum-resistant disease.

‘Treatment resistance is common in ovarian high grade serous carcinoma, often leading to relapse. Here, the authors leverage shallow whole genome and panel sequencing of 276 patients with available diagnostic and relapse samples and show high concordance of copy number and mutation status.

'Sweeping it under the carpet' takes on new meaning.

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

He did more than anyone to build the Large Hadron Collider. This year he saw it finished -- and then break down. Geoff Brumfiel profiles the LHC's project leader, Nature's newsmaker of the year.

The evolution of lowered virulence in spatially structured populations with limited dispersal has been suggested to be an example of adaptation at the group level. The extension of previous models now shows that the effect of dispersal can be understood within the framework of inclusive fitness theory, demonstrating that reduced virulence could be due to individual-level adaptation by the parasite.

Advanced nanoengineering of small-period AG lattices enables the observation of a vanishing density of states that suggests the presence of massless Dirac fermions.

Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.

The new government may have to make cuts — but which party will slice deepest?

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Spending plans in limbo as Democrats take over Congress.

Many species’ life cycles have moved earlier in the year because of climate change, but we do not know the consequences for range expansions. The authors show that these advances promote range expansions in species with multiple reproductive cycles per year, but not in species with only one.

This combined experimental and theoretical study reveals the nature of electron transfer at graphene as grown on copper. The authors find that outer-sphere electron transfer occurs adiabatically with slower kinetics for multi- than for monolayer graphene.

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Investigation of variation in three cohorts has identified multiple genetic signals associated with the pregnancy-specific liver disorder, intrahepatic cholestasis of pregnancy, giving insight into the disease which can cause preterm birth and stillbirth.

Zika virus (ZIKV) can persist in human semen and sperm, which can result in sexual transmission. Here, Griffinet al. show that a DNA vaccine, expressing ZIKV pre-membrane and envelope proteins, protects mice from infection-associated damage to testes and sperm, and prevents viral persistence in testes.

Genome-wide association studies indicate a strong genetic susceptibility to acute lymphoblastic leukaemia in children, though the effect on protein-coding genes is not fully understood. Here Xu and Zhang et al. identify a missense variant in CDKN2Awhich reduces tumour suppression.

Artificial nanostructures designed to simulate models of materials such as graphene provide insights into the material physics but can also have practical advantages. Du et al. create low-disorder artificial graphene devices, and present evidence of terahertz spin-exciton modes and large Coulomb interactions.

Steady-state chemical differentiation between Earth’s mantle and crust was reached 3.5 billion years ago, following vigorous crustal recycling, according to mass balance modelling of molybdenum isotopes measured in mantle-derived volcanic rocks.

Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

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.