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Showing 1–50 of 126 results
Advanced filters: Author: Daniel A. Koster Clear advanced filters
  • The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

    • Lauri A. Aaltonen
    • Federico Abascal
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 82-93
  • The role of orbital degrees of freedom in determining the electronic structure remains obscured. Here, Walkup et al. report strain-induced band structure changes in a topological crystalline insulator SnTe, whose surprising behavior reflects the  orbital nature of bands.

    • Daniel Walkup
    • Badih A. Assaf
    • Vidya Madhavan
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-6
  • In this Stage 2 Registered Report, Buchanan et al. show evidence confirming the phenomenon of semantic priming across speakers of 19 diverse languages.

    • Erin M. Buchanan
    • Kelly Cuccolo
    • Savannah C. Lewis
    Research
    Nature Human Behaviour
    Volume: 10, P: 182-201
  • Using systematic satellite observations of land surface temperature and soil moisture during soil dry-downs, the spatially-explicit global distribution of the critical soil moisture threshold of plant water stress and its drivers is uncovered.

    • Zheng Fu
    • Philippe Ciais
    • William K. Smith
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13
  • 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.

    • Marc Zapatka
    • Ivan Borozan
    • Christian von Mering
    ResearchOpen Access
    Nature Genetics
    Volume: 52, P: 320-330
  • Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.

    • Moritz Gerstung
    • Clemency Jolly
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 122-128
  • Chen et al. show that PEX39 cooperates with PEX7 in the peroxisomal import of proteins containing a PTS2 site and uncover an (R/K)PWE motif in PEX39 and PEX13 that binds to PEX7 and facilitates the import of PTS2-containing proteins.

    • Walter W. Chen
    • Tony A. Rodrigues
    • Bettina Warscheid
    ResearchOpen Access
    Nature Cell Biology
    Volume: 27, P: 1256-1271
  • Some cancer patients first present with metastases where the location of the primary is unidentified; these are difficult to treat. In this study, using machine learning, the authors develop a method to determine the tissue of origin of a cancer based on whole sequencing data.

    • Wei Jiao
    • Gurnit Atwal
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12
  • 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.

    • Claudia Calabrese
    • Natalie R. Davidson
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 129-136
  • The authors present SVclone, a computational method for inferring the cancer cell fraction of structural variants from whole-genome sequencing data.

    • Marek Cmero
    • Ke Yuan
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-15
  • Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.

    • Yilong Li
    • Nicola D. Roberts
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 112-121
  • Cancers evolve as they progress under differing selective pressures. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, the authors present the method TrackSig the estimates evolutionary trajectories of somatic mutational processes from single bulk tumour data.

    • Yulia Rubanova
    • Ruian Shi
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12
  • Understanding deregulation of biological pathways in cancer can provide insight into disease etiology and potential therapies. Here, as part of the PanCancer Analysis of Whole Genomes (PCAWG) consortium, the authors present pathway and network analysis of 2583 whole cancer genomes from 27 tumour types.

    • Matthew A. Reyna
    • David Haan
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-17
  • With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes project, the authors explore the concordance of mutations called by whole exome sequencing and whole genome sequencing techniques.

    • Matthew H. Bailey
    • William U. Meyerson
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-27
  • Analyses of 2,658 whole genomes across 38 types of cancer identify the contribution of non-coding point mutations and structural variants to driving cancer.

    • Esther Rheinbay
    • Morten Muhlig Nielsen
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 102-111
  • In somatic cells the mechanisms maintaining the chromosome ends are normally inactivated; however, cancer cells can re-activate these pathways to support continuous growth. Here, the authors characterize the telomeric landscapes across tumour types and identify genomic alterations associated with different telomere maintenance mechanisms.

    • Lina Sieverling
    • Chen Hong
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-13
  • 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.

    • Vinayak Bhandari
    • Constance H. Li
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-10
  • 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.

    • Marta Paczkowska
    • Jonathan Barenboim
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16
  • 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.

    • Ludmil B. Alexandrov
    • Jaegil Kim
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 94-101
  • In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.

    • Yiqun Zhang
    • Fengju Chen
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-14
  • There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.

    • Constance H. Li
    • Stephenie D. Prokopec
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-24
  • 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.

    • Shimin Shuai
    • Federico Abascal
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12
  • Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

    • Jun Fang
    • Jinping Jia
    • Laufey T. Amundadottir
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-17
  • The cytolysin, listeriolysin O (LLO), is expressed by Listeria and forms pores in the phagosomal membrane in response to decreased pH. Here, Yildiz et al. solve the crystal structure of LLO, identify residues that serve as the pH sensor, and determine the mechanism of pore formation in host membranes.

    • Stefan Köster
    • Katharina van Pee
    • Özkan Yildiz
    Research
    Nature Communications
    Volume: 5, P: 1-14
  • A moiré quasicrystal constructed by twisting three layers of graphene with two different twist angles shows high tunability between a periodic-like regime at low energies and a strongly quasiperiodic regime at higher energies alongside strong interactions and superconductivity.

    • Aviram Uri
    • Sergio C. de la Barrera
    • Pablo Jarillo-Herrero
    Research
    Nature
    Volume: 620, P: 762-767
  • We find that justice considerations constrain the integrated Earth system boundaries more than safety considerations for climate and atmospheric aerosol loading, and our assessment provides a foundation for safeguarding the global commons for all people.

    • Johan Rockström
    • Joyeeta Gupta
    • Xin Zhang
    ResearchOpen Access
    Nature
    Volume: 619, P: 102-111
  • Estimates from the Global Dietary Database indicated that 2.2 million new type 2 diabetes and 1.2 million new cardiovascular disease cases were attributable to sugar-sweetened beverages worldwide in 2020, with the highest burdens in sub-Saharan Africa, Latin America and the Caribbean.

    • Laura Lara-Castor
    • Meghan O’Hearn
    • Rubina Hakeem
    ResearchOpen Access
    Nature Medicine
    Volume: 31, P: 552-564
  • Recent estimates of sugar-sweetened beverages (SSBs) intake are generally unavailable. Here the authors show a global SSBs intake of 2.7 servings/week in 2018 in adults (range: 0.7 South Asia, 7.8 Latin America/Caribbean); intakes were higher among males, younger, more educated, and urban adults.

    • Laura Lara-Castor
    • Renata Micha
    • Rubina Hakeem
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-19
  • 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.

    • Isidro Cortés-Ciriano
    • Jake June-Koo Lee
    • Christian von Mering
    ResearchOpen Access
    Nature Genetics
    Volume: 52, P: 331-341
  • 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.

    • Yuan Yuan
    • Young Seok Ju
    • Christian von Mering
    ResearchOpen Access
    Nature Genetics
    Volume: 52, P: 342-352
  • Pulsed laser deposition is used for the heteroepitaxial growth of methylammonium lead iodide (CH3NH3PbI3) thin films on a KCl substrate at room temperature. Experimental and computational results confirm cubic phase stabilization by tensile epitaxial strain in the CH3NH3PbI3 thin films.

    • Junia S. Solomon
    • Tatiana Soto-Montero
    • Monica Morales-Masis
    Research
    Nature Synthesis
    Volume: 4, P: 432-443
  • An analysis based on data from the Global Dietary Database shows mean animal-sourced food intakes among children and adolescents increased modestly from 1990 to two portions per day in 2018, but remain low in sub-Saharan Africa, India and Bangladesh.

    • Victoria Miller
    • Patrick Webb
    • Rubina Hakeem
    ResearchOpen Access
    Nature Food
    Volume: 4, P: 305-319
  • Dietary quality is reported at the global, regional and national level across 185 countries. Though diet quality increased modestly since 1990 at the global level, in South Asia and Sub-Saharan Africa it did not improve. In some regions, children’s dietary quality is lower than that of adults.

    • Victoria Miller
    • Patrick Webb
    • Rubina Hakeem
    ResearchOpen Access
    Nature Food
    Volume: 3, P: 694-702
  • Modeling analysis from the Global Dietary Database estimated that 70% of new global cases of type 2 diabetes are attributable to suboptimal intake of 11 dietary factors, with substantial differences in dietary risks across world regions and nations.

    • Meghan O’Hearn
    • Laura Lara-Castor
    • Rubina Hakeem
    ResearchOpen Access
    Nature Medicine
    Volume: 29, P: 982-995
  • Analyses of genomes from 914 children, adolescents, and young adults provide a comprehensive resource of genomic alterations across a spectrum of common childhood cancers.

    • Susanne N. Gröbner
    • Barbara C. Worst
    • Stefan M. Pfister
    ResearchOpen Access
    Nature
    Volume: 555, P: 321-327
  • Congenital nephrogenic diabetes insipidus is a rare but potentially life-threatening condition. This Consensus Statement provides clinical practice recommendations developed by the European Reference Network on Rare Kidney Diseases, the European Society for Paediatric Nephrology and patient advocates to support clinicians in the diagnosis, treatment and genetic counselling of children and adults with nephrogenic diabetes insipidus.

    • Elena Levtchenko
    • Gema Ariceta
    • Nine V.A.M. Knoers
    Reviews
    Nature Reviews Nephrology
    Volume: 21, P: 83-96