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Showing 1–50 of 179 results
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  • Together with a companion paper, molecular details of immune responses in a pig-to-human xenotransplantation are identified through dense longitudinal multi-omics profiling of the xenograft and the host recipient, across the 61-day procedure.

    • Eloi Schmauch
    • Brian D. Piening
    • Brendan J. Keating
    Research
    Nature
    P: 1-13
  • Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

    • Glennis A. Logsdon
    • Peter Ebert
    • Tobias Marschall
    ResearchOpen Access
    Nature
    Volume: 644, P: 430-441
  • Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

    • Lucia Trastulla
    • Georgii Dolgalev
    • Michael J. Ziller
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-28
  • MRI data from more than 100 studies have been aggregated to yield new insights about brain development and ageing, and create an interactive open resource for comparison of brain structures throughout the human lifespan, including those associated with neurological and psychiatric disorders.

    • R. A. I. Bethlehem
    • J. Seidlitz
    • A. F. Alexander-Bloch
    ResearchOpen Access
    Nature
    Volume: 604, P: 525-533
  • 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
  • Analysing data on the relative abundance of basal area of ectomycorrhizal trees from lowland tropical forests, the authors show that their distribution and abundance are independent of soil quality.

    • José A. Medina-Vega
    • Daniel Zuleta
    • Stuart J. Davies
    Research
    Nature Ecology & Evolution
    Volume: 8, P: 400-410
  • 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
  • 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
  • Primary angle-closure glaucoma is a leading cause of blindness. Here, the authors identify rare deleterious variants in UBOX5 as risk factors and implicate BIP ubiquitination as a potential disease mechanism.

    • Zheng Li
    • Wee Ling Chng
    • Chiea Chuen Khor
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-13
  • 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
  • Although the number of participants is important for phenotypic prediction accuracy in brain-wide association studies using functional MRI, scanning for at least 30 min offers the greatest cost effectiveness.

    • Leon Qi Rong Ooi
    • Csaba Orban
    • Clifford R. Jack Jr
    ResearchOpen Access
    Nature
    Volume: 644, P: 731-740
  • A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

    • Vassily Trubetskoy
    • Antonio F. Pardiñas
    • Jim van Os
    Research
    Nature
    Volume: 604, P: 502-508
  • Multi-ancestry meta-analyses of genome-wide association studies for self-reported physical activity during leisure time, leisure screen time, sedentary commuting and sedentary behavior at work identify 99 loci associated with at least one of these traits.

    • Zhe Wang
    • Andrew Emmerich
    • Marcel den Hoed
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 1332-1344
  • As the thickness of a three-dimensional (3D) topological insulator (TI) becomes comparable to the penetration depth of surface states, hybridization turns their gapless Dirac electronic structure into a gapped spectrum. Here, authors show that 2D topological states can exist in the 3D TI BiSbTeSe2 when the Fermi level is inside the hybridization gap.

    • Su Kong Chong
    • Lizhe Liu
    • Vikram V. Deshpande
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-8
  • It is important to understand dwell fatigue that has been implicated in several uncontained jet engine failures. Here the authors observe stress bursts due to slip intermittency in a Ti alloy using synchrotron x-ray diffraction microscopy to understand the roles of precipitates and trace oxygen.

    • Felicity F. Worsnop
    • Rachel E. Lim
    • David Dye
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-9
  • A multi-omic analysis of pancreatic cancer identifies spatially resolved, heterogeneous cell populations including transitional cell types. Analysis of primary samples identifies treatment-related changes in cross-talk between tumor and stromal cells.

    • Daniel Cui Zhou
    • Reyka G. Jayasinghe
    • Li Ding
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 1390-1405
  • The cGAS–STING signalling pathway is a critical driver of chronic inflammation and functional decline during ageing, and could be targeted to halt neurodegenerative processes during old age.

    • Muhammet F. Gulen
    • Natasha Samson
    • Andrea Ablasser
    ResearchOpen Access
    Nature
    Volume: 620, P: 374-380
  • 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
  • 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
  • John Chambers, Jaspal Kooner, Pim van der Harst, Shyong Tai, Paul Elliott, Jiang He, Norihiro Kato and colleagues performed a genome-wide association study of blood pressure phenotypes in individuals of European, East Asian and South Asian ancestry. They find trait-associated SNPs at 12 loci, some of which are associated with methylation at nearby CpG sites.

    • Norihiro Kato
    • Marie Loh
    • John C Chambers
    Research
    Nature Genetics
    Volume: 47, P: 1282-1293
  • East Asia contains “relict” plant species that persist under narrow climatic conditions after once having wider distributions. Here, using distribution records coupled with ecological niche models, the authors identify long-term stable refugia possessing past, current and future climatic suitability favoring ancient plant lineages.

    • Cindy Q. Tang
    • Tetsuya Matsui
    • Jordi López-Pujol
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-14
  • 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
  • A report from the Australian Acute Care Genomics programme shows that the integration of rapid whole-genome sequencing and multi-omic analyses informs diagnoses and treatment decisions in a prospective cohort of 290 critically ill infants and children.

    • Sebastian Lunke
    • Sophie E. Bouffler
    • Zornitza Stark
    ResearchOpen Access
    Nature Medicine
    Volume: 29, P: 1681-1691
  • 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
  • The authors report the emergence of a transient hexatic state during laser-induced transformation between two charge-density wave (CDW) phases in a thin film of the CDW material 1T-TaS2.

    • Till Domröse
    • Thomas Danz
    • Claus Ropers
    ResearchOpen Access
    Nature Materials
    Volume: 22, P: 1345-1351
  • Genome-wide analyses of vaccine antibody responses in 2,499 infants from Uganda, South Africa and Burkina Faso identify associations between specific HLA genes and response to eight vaccines, providing insights that could be considered for population-adjusted vaccine design strategies.

    • Alexander J. Mentzer
    • Alexander T. Dilthey
    • Manjinder S. Sandhu
    ResearchOpen Access
    Nature Medicine
    Volume: 30, P: 1384-1394
  • This is a summary of some of the panel and round table discussions held under the auspices of the European Group on Graves’ Orbitopathy (EUGOGO) GlobalTED Forum at Imperial College London in September 2025 to identify unmet needs, explore future directions, and propose practical strategies for improving the management of Thyroid Eye Disease (TED).

    • Vickie Lee
    • Mario Salvi
    • Karim Meeran
    Comments & OpinionOpen Access
    Eye
    P: 1-2
  • 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
  • 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
  • Analysis of policies for promotion criteria to full professor from academic institutions and government agencies worldwide reveals considerable variation in assessment practices, particularly between the Global North and South.

    • B. H. Lim
    • C. D’Ippoliti
    • Y. Flores Bueso
    ResearchOpen Access
    Nature
    Volume: 638, P: 459-468
  • Lymphatic endothelial cells (LECs) can cross-present antigen to naïve CD8+ T cells, but the significance of this interaction was unclear. Here the authors show that LECs directly induce CD8+ T cell differentiation with memory-like phenotypes, migration patterns and transcriptome, which can later be recalled to promote effector immunity and protection from Listeria infection.

    • Efthymia Vokali
    • Shann S. Yu
    • Melody A. Swartz
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-18
  • 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
  • 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
  • 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
  • Federated ML (FL) provides an alternative to train accurate and generalizable ML models, by only sharing numerical model updates. Here, the authors present the largest FL study to-date to generate an automatic tumor boundary detector for glioblastoma.

    • Sarthak Pati
    • Ujjwal Baid
    • Spyridon Bakas
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-17
  • 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