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Showing 1–50 of 376 results
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  • 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
  • A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

    • Loïc Yengo
    • Sailaja Vedantam
    • Joel N. Hirschhorn
    ResearchOpen Access
    Nature
    Volume: 610, P: 704-712
  • 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
  • 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
  • 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
  • An analysis of rare genetic variants identifies three genes—MAP1A, ANO8 and ANK2—that have a role in attention deficit hyperactivity disorder (ADHD) and investigates the potential underlying biological mechanisms.

    • Ditte Demontis
    • Jinjie Duan
    • Anders D. Børglum
    ResearchOpen Access
    Nature
    Volume: 649, P: 909-917
  • 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
  • Large-scale genome-wide analyses identify hundreds of genetic loci associated with hypothyroidism and thyroid hormone levels, demonstrating the potential of using polygenic risk scores to predict disease onset and progression.

    • Søren A. Rand
    • Gustav Ahlberg
    • Jonas Ghouse
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 3007-3015
  • Comparative genomics of 24 Penicillium species, including 9 that are newly sequenced, characterizes over 1000 secondary metabolism gene clusters, some of which are validated experimentally, identifying these fungi as an important untapped source of bioactive compounds.

    • Jens Christian Nielsen
    • Sietske Grijseels
    • Jens Nielsen
    Research
    Nature Microbiology
    Volume: 2, P: 1-9
  • 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
  • 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
  • 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
  • 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
  • Reliable prediction of bacterial abundance dynamics in microbial communities is still unresolved. Here, the authors built a graph neural network-based model trained on historical relative abundance data to predict species abundance dynamics for weeks to months for any longitudinal microbial dataset.

    • Kasper Skytte Andersen
    • Kai Zhao
    • Per Halkjær Nielsen
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14
  • 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
  • A device architecture based on indium arsenide–aluminium heterostructures with a gate-defined superconducting nanowire allows single-shot interferometric measurement of fermion parity and demonstrates an assignment error probability of 1%.

    • Morteza Aghaee
    • Alejandro Alcaraz Ramirez
    • Justin Zilke
    ResearchOpen Access
    Nature
    Volume: 638, P: 651-655
  • An analysis involving the shotgun sequencing of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary.

    • Morten E. Allentoft
    • Martin Sikora
    • Eske Willerslev
    ResearchOpen Access
    Nature
    Volume: 625, P: 301-311
  • 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
  • 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
  • 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
  • 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
  • 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
  • Hydroformylation of alkenes is widely used in industry to synthesize aldehydes, but is less prominent in small laboratories due to safety and equipment issues associated with the CO/H2 mixture. This is now addressed by generating stoichiometric syngas from two main element compounds, with water as the activator.

    • Samuel K. Pedersen
    • Haraldur G. Gudmundsson
    • Troels Skrydstrup
    Research
    Nature Catalysis
    Volume: 3, P: 843-850
  • 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
  • Recently, the first orally-administered ultra-long acting insulin was shown to have clinical efficacy. Here, the authors report the molecular engineering, as well as the biological and pharmacological properties of these insulin analogues.

    • Frantisek Hubálek
    • Hanne H. F. Refsgaard
    • Thomas Kjeldsen
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-9
  • A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

    • Aniket Mishra
    • Rainer Malik
    • Stephanie Debette
    ResearchOpen Access
    Nature
    Volume: 611, P: 115-123
  • The widespread use of fuel cells requires improved catalysts to reduce oxygen efficiently at the cathode. It is shown that model, well-characterized size-selected PtxY nanoparticles can be synthesized by the gas aggregation technique, and that they are highly active for this reaction.

    • Patricia Hernandez-Fernandez
    • Federico Masini
    • Ib Chorkendorff
    Research
    Nature Chemistry
    Volume: 6, P: 732-738
  • Integrated data, including 100 human genomes from the Mesolithic, Neolithic and Early Bronze Age periods show that two major population turnovers occurred over just 1,000 years in Neolithic Denmark, resulting in dramatic changes in the genes, diet and physical appearance of the local people, as well as the landscape in which they lived.

    • Morten E. Allentoft
    • Martin Sikora
    • Eske Willerslev
    ResearchOpen Access
    Nature
    Volume: 625, P: 329-337
  • Oxygen reduction occurring in the surface layer of marine sediments can be coupled to sulphide oxidation in deeper anoxic layers; it is now shown that the electron transfer is mediated by filamentous bacteria acting like living electrical cables.

    • Christian Pfeffer
    • Steffen Larsen
    • Lars Peter Nielsen
    Research
    Nature
    Volume: 491, P: 218-221
  • Maize originated in southern Mexico from domestication of the wild grass teosinte, and diffused throughout the Americas. Sequenced DNA from archaeological samples spanning 6,000 years, documents the diffusion route and reveals the genes that were specifically selected for climatic and cultural adaptation to the US Southwest.

    • Rute R. da Fonseca
    • Bruce D. Smith
    • M. Thomas P. Gilbert
    Research
    Nature Plants
    Volume: 1, P: 1-5
  • A high-resolution, global atlas of mortality of children under five years of age between 2000 and 2017 highlights subnational geographical inequalities in the distribution, rates and absolute counts of child deaths by age.

    • Roy Burstein
    • Nathaniel J. Henry
    • Simon I. Hay
    ResearchOpen Access
    Nature
    Volume: 574, P: 353-358
  • Measurements on a chiral magnet show that non-symmorphic symmetries enforce topological crossings exactly at the Fermi level in certain materials; these crossings can be controlled by an applied magnetic field.

    • Marc A. Wilde
    • Matthias Dodenhöft
    • Christian Pfleiderer
    ResearchOpen Access
    Nature
    Volume: 594, P: 374-379
  • Warming temperatures and interactions between plants are the main drivers of changes in Arctic plant communities in response to climate change, and there is no evidence of overall biotic homogenization.

    • Mariana García Criado
    • Isla H. Myers-Smith
    • Mark Vellend
    ResearchOpen Access
    Nature
    Volume: 642, P: 653-661