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Showing 1–50 of 699 results
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  • De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

    • Mathieu Quinodoz
    • Kim Rodenburg
    • Carlo Rivolta
    ResearchOpen Access
    Nature Genetics
    Volume: 58, P: 169-179
  • Rjoob et al. develop CardioKG, a knowledge graph built on cardiac imaging traits to identify genetic associations and potential therapeutic strategies and drug repurposing opportunities for cardiovascular diseases.

    • Khaled Rjoob
    • Kathryn A. McGurk
    • Declan P. O’Regan
    ResearchOpen Access
    Nature Cardiovascular Research
    Volume: 5, P: 18-33
  • The physics of swimming at the mesoscale, where nonlinear and time-dependent fluid mechanics prevail, remains poorly understood. Here, the authors use a micropipette force sensor and deep neural network–based image analysis to reveal how Artemia enhances propulsion, establishing a universal force-based scaling law that informs future biomimetic meso-robot designs.

    • R. A. Lara
    • N. Sharadhi
    • M. Backholm
    ResearchOpen Access
    Communications Physics
    P: 1-11
  • Synovial sarcoma (SyS) is a cancer driven by a fusion oncoprotein, SS18::SSX, but the mechanism underlying the oncoprotein-mediated tumorigenesis remains unclear. Here, the authors employ transgenic mouse models and multi-omics to show how SS18:SSX modifies the activity and recruitment of BAF-family chromatin remodeling complexes to drive SyS tumorigenesis.

    • Jinxiu Li
    • Li Li
    • Kevin B. Jones
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-19
  • The pathogen Streptococcus pneumoniae can adapt to diverse microenvironments in the human body. Here, De Bakker et al. study these adaptation responses, showing unusual sugar utilization and identifying FasR as a regulator of membrane composition and heat stress resistance.

    • Vincent de Bakker
    • Xue Liu
    • Jan-Willem Veening
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16
  • The CMS Collaboration reports the measurement of the spin, parity, and charge conjugation properties of all-charm tetraquarks, exotic fleeting particles formed in proton–proton collisions at the Large Hadron Collider.

    • A. Hayrapetyan
    • V. Makarenko
    • A. Snigirev
    ResearchOpen Access
    Nature
    Volume: 648, P: 58-63
  • Wastewater-based surveillance tends to focus on specific pathogens. Here, the authors mapped the wastewater virome from 62 cities worldwide to identify over 2,500 viruses, revealing city-specific virome fingerprints and showing that wastewater metagenomics enables early detection of emerging viruses.

    • Nathalie Worp
    • David F. Nieuwenhuijse
    • Miranda de Graaf
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-19
  • 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
  • Beck et al. develop a model where striosomes create a flexible “decision-space” that adapts to environmental context and internal state. It explains how we make choices and why decision-making varies between people, and in neuropsychiatric disorders.

    • Dirk W. Beck
    • Cory N. Heaton
    • Alexander Friedman
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-30
  • Antimicrobial resistance genes that have been mobilized between bacterial species represent a subset of the naturally occurring resistome. Here, the authors compare the abundance, diversity and geographical patterns of acquired resistance genes with latent resistance genes in global sewage metagenomes.

    • Hannah-Marie Martiny
    • Patrick Munk
    • Frank M. Aarestrup
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-12
  • 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
  • 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 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
  • The quark structure of the f0(980) hadron is still unknown after 50 years of its discovery. Here, the CMS Collaboration reports a measurement of the elliptic flow of the f0(980) state in proton-lead collisions at a nucleon-nucleon centre-of-mass energy of 8.16 TeV, providing strong evidence that the state is an ordinary meson.

    • A. Hayrapetyan
    • A. Tumasyan
    • A. Zhokin
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-19
  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477
  • An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

    • Erola Pairo-Castineira
    • Konrad Rawlik
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 617, P: 764-768
  • Ewing sarcoma (ES) is characterized by EWSR1/ETS gene rearrangements with unknown cellular origin. Here, authors show that expressing the EWS::FLI1 oncogene in human embryonic mesenchymal stem cells induces an Ewing sarcoma-like transcriptome and forms tumors in mice.

    • Inmaculada Hernández-Muñoz
    • Irene Cuervas
    • Jaume Mora
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-21
  • 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
  • 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
  • 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
  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103
  • 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
  • HistoPlexer, a deep learning model, generates multiplexed protein expression maps from H&E images, capturing tumour–immune cell interactions. It outperforms baselines, enhances immune subtyping and survival prediction and offers a cost-effective tool for precision oncology.

    • Sonali Andani
    • Boqi Chen
    • Gunnar Rätsch
    ResearchOpen Access
    Nature Machine Intelligence
    Volume: 7, P: 1292-1307
  • Experimental measurements of high-order out-of-time-order correlators on a superconducting quantum processor show that these correlators remain highly sensitive to the quantum many-body dynamics in quantum computers at long timescales.

    • Dmitry A. Abanin
    • Rajeev Acharya
    • Nicholas Zobrist
    ResearchOpen Access
    Nature
    Volume: 646, P: 825-830
  • Perineural invasion and cancer-induced nerve injury of tumour-associated nerves are associated with poor response to anti-PD-1 therapy, which can be reversed by combining anti-PD-1 therapy with anti-inflammatory interventions.

    • Erez N. Baruch
    • Frederico O. Gleber-Netto
    • Moran Amit
    ResearchOpen Access
    Nature
    Volume: 646, P: 462-473
  • A study presents a biocatalytic method for the formation of sterically hindered biaryl bonds, providing a tunable approach for assembling molecules with catalyst-controlled reactivity, site selectivity and atroposelectivity.

    • Lara E. Zetzsche
    • Jessica A. Yazarians
    • Alison R. H. Narayan
    Research
    Nature
    Volume: 603, P: 79-85
  • Does aromaticity have a size limit? Evidence is presented for global aromaticity in porphyrin nanorings with circuits of up to 162 π-electrons. The conformation of the nanoring can be altered by changing the template, which in turn controls the aromaticity. Whenever a ring current is observed, its direction is correctly predicted by Hückel’s rule.

    • Michel Rickhaus
    • Michael Jirasek
    • Harry L. Anderson
    Research
    Nature Chemistry
    Volume: 12, P: 236-241
  • Cellular glycosylation is complex and heterogeneous, which is challenging to reproduce synthetically. Here, the authors report on enzymatic remodelling of multivalent glycosylated bacteriophages to produce genetically encoded library of N-glycans which can be used to measure glycan-protein interactions with lectins on the surface of live cells and organs.

    • Chih-Lan Lin
    • Mirat Sojitra
    • Ratmir Derda
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15
  • 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
  • Circadian medicine, or chronotherapy, seeks to improve drug efficacy based on individuals’ circadian rhythms. Here, the authors combine principles of tissue engineering and synthetic biology to create a chronogenetic gene circuit for cell-based delivery of biologic drugs at controlled times of day.

    • Lara Pferdehirt
    • Anna R. Damato
    • Farshid Guilak
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-11
  • The authors investigate the local/regional nature and associated oxidative potential of PM2.5 emission sources in northern India and show that reducing local inefficient combustion emissions can effectively mitigate PM health effects.

    • Deepika Bhattu
    • Sachchida Nand Tripathi
    • André S. H. Prévôt
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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