Biomarkers articles within Nature

Featured

  • Article
    | Open Access

    A meta-analysis of genome-wide association studies for 233 circulating metabolites from 33 cohorts reveals more than 400 loci and suggests probable causal genes, providing insights into metabolic pathways and disease aetiology.

    • Minna K. Karjalainen
    • , Savita Karthikeyan
    •  & Johannes Kettunen
  • Article
    | Open Access

    Blood plasma protein data was combined with machine learning models for a simple method to determine differences in organ-specific aging; the study provides a basis for the prediction of diseases and aging effects using plasma proteomics.

    • Hamilton Se-Hwee Oh
    • , Jarod Rutledge
    •  & Tony Wyss-Coray
  • Article
    | Open Access

    Sturgeon is a pretrained neural network that uses incremental results from nanopore sequencing to rapidly classify central nervous system tumours and can be used to aid critical decision-making during surgery.

    • C. Vermeulen
    • , M. Pagès-Gallego
    •  & J. de Ridder
  • Perspective |

    This Perspective reviews the utility and interpretation of circulating tumour DNA for the detection of residual and recurrent cancers and provides recommendations regarding its clinical application for a variety of solid tumours.

    • Stacey A. Cohen
    • , Minetta C. Liu
    •  & Alexey Aleshin
  • Article |

    Loss of the Y chromosome in tumour cells is associated with a poor prognosis for patients with bladder cancer by causing local T cell exhaustion, which also increases the response to immune checkpoint blockade therapy.

    • Hany A. Abdel-Hafiz
    • , Johanna M. Schafer
    •  & Dan Theodorescu
  • Article
    | Open Access

    Indole-3-acetic acid (3-IAA), a tryptophan metabolite derived from the gut microbiota, is associated with a better response to chemotherapy in pancreatic ductal adenocarcinoma (PDAC), and dietary interventions could have a role in the treatment of PDAC.

    • Joseph Tintelnot
    • , Yang Xu
    •  & Nicola Gagliani
  • Article
    | Open Access

    We describe a human DNA methylome atlas based on deep whole-genome bisulfite sequencing, allowing fragment-level analysis of cell-type-specific markers and providing an essential resource for studies of gene regulation and for deconvolution of cell mixtures and liquid biopsies.

    • Netanel Loyfer
    • , Judith Magenheim
    •  & Tommy Kaplan
  • Article
    | Open Access

    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
  • Article |

    Targeted therapies matched to genomics improved progression-free survival when genomic alterations were classified as level I/II (according to ESCAT), and genomics should thus be driven by target actionability in patients with metastatic breast cancer.

    • Fabrice Andre
    • , Thomas Filleron
    •  & Ivan Bieche
  • Article
    | Open Access

    Analyses of circulating cell-free RNA (cfRNA) in blood samples from pregnant mothers identify changes in gene expression that could be used in liquid biopsy tests to identify and monitor individuals who are at risk of preeclampsia.

    • Mira N. Moufarrej
    • , Sevahn K. Vorperian
    •  & Stephen R. Quake
  • Perspective |

    The Dog Aging Project is an open-data, community science study to identify genetic, environmental and lifestyle factors associated with canine healthy lifespan, generating knowledge that could readily translate to human ageing.

    • Kate E. Creevy
    • , Joshua M. Akey
    •  & Benjamin S. Wilfond
  • Article |

    A robust, cost-effective technique based on whole-exome sequencing data can be used to characterize immune infiltrates, relate the extent of these infiltrates to somatic changes in tumours, and enables prediction of tumour responses to immune checkpoint inhibition therapy.

    • Robert Bentham
    • , Kevin Litchfield
    •  & Nicholas McGranahan
  • Perspective |

    The LifeTime initiative is an ambitious, multidisciplinary programme that aims to improve healthcare by tracking individual human cells during disease processes and responses to treatment in order to develop and implement cell-based interceptive medicine in Europe.

    • Nikolaus Rajewsky
    • , Geneviève Almouzni
    •  & Frauke Zipp
  • Article |

    Microbial nucleic acids are detected in samples of tissues and blood from more than 10,000 patients with cancer, and machine learning is used to show that these can be used to discriminate between and among different types of cancer, suggesting a new microbiome-based diagnostic approach.

    • Gregory D. Poore
    • , Evguenia Kopylova
    •  & Rob Knight
  • Article |

    Multiomic profiling of several cohorts of patients treated with immune checkpoint blockade highlights the presence and potential role of B cells and tertiary lymphoid structures in promoting therapy response.

    • Beth A. Helmink
    • , Sangeetha M. Reddy
    •  & Jennifer A. Wargo
  • Article |

    Immune profiling of the tumour microenvironment of soft-tissue sarcoma identifies a group of patients with high levels of B-cell infiltration and tertiary lymphoid structures that have improved survival and a high response rate to immune checkpoint blockade therapy.

    • Florent Petitprez
    • , Aurélien de Reyniès
    •  & Wolf H. Fridman
  • Article
    | Open Access

    Deep profiling of transcriptomes, metabolomes, cytokines, and proteomes, alongside changes in the microbiome, in samples from individuals with and without prediabetes reveal insights into inter-individual variability and associations between changes in the microbiome and other factors.

    • Wenyu Zhou
    • , M. Reza Sailani
    •  & Michael Snyder
  • Letter |

    In a phase I trial, highly individualized peptide vaccines against unmutated tumour antigens and neoepitopes elicited sustained responses in CD8+ and CD4+ T cells, respectively, in patients with newly diagnosed glioblastoma.

    • Norbert Hilf
    • , Sabrina Kuttruff-Coqui
    •  & Wolfgang Wick
  • Article |

    Analyses of samples from patients with acute myeloid leukaemia reveal that drug response is associated with mutational status and gene expression; the generated dataset provides a basis for future clinical and functional studies of this disease.

    • Jeffrey W. Tyner
    • , Cristina E. Tognon
    •  & Brian J. Druker
  • Article
    | Open Access

    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
  • Letter |

    In humans, TGFβ signalling is associated with lack of response to immunotherapy in immune-excluded tumours; in mouse models of this immune phenotype, robust tumour infiltration by T cells and tumour regression are observed only when checkpoint inhibition is combined with inhibition of TGFβ signalling.

    • Sanjeev Mariathasan
    • , Shannon J. Turley
    •  & Thomas Powles
  • Article |

    Circulating tumour DNA profiling in early-stage non-small-cell lung cancer can be used to track single-nucleotide variants in plasma to predict lung cancer relapse and identify tumour subclones involved in the metastatic process.

    • Christopher Abbosh
    • , Nicolai J. Birkbak
    •  & Charles Swanton
  • Article |

    Genomic analyses of localized, non-indolent prostate cancer identify recurrent aberrations that can predict relapse, and also highlight differences between early prostate cancer and metastatic, castration-resistant disease.

    • Michael Fraser
    • , Veronica Y. Sabelnykova
    •  & Paul C. Boutros
  • Letter |

    A rapid gene signature test (LSC17) that captures stem cell expression programs in acute myeloid leukaemia patients at diagnosis is associated with therapy response and survival, facilitating initial treatment stratification.

    • Stanley W. K. Ng
    • , Amanda Mitchell
    •  & Jean C. Y. Wang
  • Brief Communications Arising |

    • Zhaleh Safikhani
    • , Nehme El-Hachem
    •  & Benjamin Haibe-Kains
  • Letter |

    In a mouse model of ischaemia, mitochondrial particles released from astroctyes are taken up by adjacent neurons, leading to enhanced cell survival signalling; disruption of this release mechanism resulted in worsened neurological outcomes.

    • Kazuhide Hayakawa
    • , Elga Esposito
    •  & Eng H. Lo
  • Brief Communications Arising |

    • Nan Qin
    • , Emmanuelle Le Chatelier
    •  & S. Dusko Ehrlich
  • Article |

    Glypican-1 identifies cancer exosomes and serves as a biomarker for detection of early pancreatic cancer in patients and mouse models of the disease; the findings may enable early and non-invasive identification, and prevention of malignant cancer.

    • Sonia A. Melo
    • , Linda B. Luecke
    •  & Raghu Kalluri