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Showing 1–38 of 38 results
Advanced filters: Author: Neil Philip Gains Clear advanced filters
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

    • Sarah E. Graham
    • Shoa L. Clarke
    • Cristen J. Willer
    Research
    Nature
    Volume: 600, P: 675-679
  • Analyses of the TRACERx study unveil the relationship between tissue morphology, the underlying evolutionary genomic landscape, and clinical and anatomical relapse risk of lung adenocarcinomas.

    • Takahiro Karasaki
    • David A. Moore
    • Mariam Jamal-Hanjani
    Research
    Nature Medicine
    Volume: 29, P: 833-845
  • It is unclear how often genetic mosaicism of chromosome X arises. Here, the authors examine women with cancer and cancer-free controls and show that X chromosome mosaicism occurs more frequently than on autosomes, especially on the inactive X chromosome, but is not linked to non-haematologic cancer risk

    • Mitchell J. Machiela
    • Weiyin Zhou
    • Stephen J. Chanock
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-9
  • 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
  • Fishing has had a profound impact on global reef shark populations, and the absence or presence of sharks is strongly correlated with national socio-economic conditions and reef governance.

    • M. Aaron MacNeil
    • Demian D. Chapman
    • Joshua E. Cinner
    Research
    Nature
    Volume: 583, P: 801-806
  • 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
  • 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
  • A state-level analysis of the impact of enhanced weathering deployment on carbon sequestration on agricultural land suggests that enhanced weathering could help the USA meet net-zero 2050 goals.

    • David J. Beerling
    • Euripides P. Kantzas
    • Maria Val Martin
    ResearchOpen Access
    Nature
    Volume: 638, P: 425-434
  • 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
  • Results of the TRACERx study shed new light into the association between body composition and body weight with survival in individuals with non-small cell lung cancer, and delineate potential biological processes and mediators contributing to the development of cancer-associated cachexia.

    • Othman Al-Sawaf
    • Jakob Weiss
    • Charles Swanton
    Research
    Nature Medicine
    Volume: 29, P: 846-858
  • The species threat abatement and restoration (STAR) metric quantifies the contributions that abating threats and restoring habitats offer towards reducing species’ extinction risk in specific places.

    • Louise Mair
    • Leon A. Bennun
    • Philip J. K. McGowan
    Research
    Nature Ecology & Evolution
    Volume: 5, P: 836-844
  • Identifying driver genes in unstable, heterogenous tumour types can be challenging. Here, Mourikis, Benedetti, Foxall and colleagues present a machine learning algorithm to tackle this problem in esophageal adenocarcinoma.

    • Thanos P. Mourikis
    • Lorena Benedetti
    • Francesca D. Ciccarelli
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-17
  • Rebecca Fitzgerald and colleagues report the whole-genome sequences of 129 esophageal adenocarcinomas, showing frequent copy number alterations and prevalent mutations in receptor tyrosine kinases concomitant with mitogenic activation. They further characterize mutation signatures and find three distinct molecular subtypes with potential for application to clinical diagnosis and treatment.

    • Maria Secrier
    • Xiaodun Li
    • Sean M Grimmond
    Research
    Nature Genetics
    Volume: 48, P: 1131-1141
  • Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

    • David W Clark
    • Yukinori Okada
    • James F Wilson
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-17
  • Luis Pérez-Jurado, Stephen Chanock and colleagues detect clonal chromosomal abnormalities in peripheral blood or buccal samples from individuals in the general population. They show that the frequency of such events increases with age and is associated with elevated risk of developing subsequent hematological cancers.

    • Kevin B Jacobs
    • Meredith Yeager
    • Stephen J Chanock
    Research
    Nature Genetics
    Volume: 44, P: 651-658
  • A survey of sharks and rays on coral reefs within 66 marine protected areas across 36 countries showcases that the conservation benefits of full MPA protection to sharks almost double when accompanied by effective fisheries management.

    • Jordan S. Goetze
    • Michael R. Heithaus
    • Demian D. Chapman
    Research
    Nature Ecology & Evolution
    Volume: 8, P: 1118-1128
  • An integrated transcriptome, genome, methylome and proteome analysis of over 200 lung adenocarcinomas reveals high rates of somatic mutations, 18 statistically significantly mutated genes including RIT1 and MGA, splicing changes, and alterations in MAPK and PI(3)K pathway activity.

    • Eric A. Collisson
    • Joshua D. Campbell
    • Ming-Sound Tsao
    ResearchOpen Access
    Nature
    Volume: 511, P: 543-550
  • Reninomas are very rare kidney tumours of juxtaglomerular cells. Here, the authors analyse reninomas using whole-genome and transcriptome sequencing, and reveal the presence and functional effects of NOTCH1 rearrangements.

    • Taryn D. Treger
    • John E. G. Lawrence
    • Tanzina Chowdhury
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-10
  • The millimetre image of the Centaurus A nucleus by the Event Horizon Telescope reveals a highly collimated, asymmetrically edge-brightened jet. The source’s event horizon shadow should be visible at terahertz frequencies, consistent with the universal scale invariance of black holes.

    • Michael Janssen
    • Heino Falcke
    • Shan-Shan Zhao
    ResearchOpen Access
    Nature Astronomy
    Volume: 5, P: 1017-1028
  • A detailed assessment of the techno-economic potential of enhanced rock weathering on croplands identifies national CO2 removal potentials, costs and engineering challenges if it were to be scaled up to help meet ambitious global CO2 removal targets.

    • David J. Beerling
    • Euripides P. Kantzas
    • Steven A. Banwart
    Research
    Nature
    Volume: 583, P: 242-248
  • The genomes of 102 primary pancreatic neuroendocrine tumours have been sequenced, revealing mutations in genes with functions such as chromatin remodelling, DNA damage repair, mTOR activation and telomere maintenance, and a greater-than-expected contribution from germ line mutations.

    • Aldo Scarpa
    • David K. Chang
    • Sean M. Grimmond
    Research
    Nature
    Volume: 543, P: 65-71
  • This paper describes molecular subtypes of cervical cancers, including squamous cell carcinoma and adenocarcinoma clusters defined by HPV status and molecular features, and distinct molecular pathways that are activated in cervical carcinomas caused by different somatic alterations and HPV types.

    • Robert D. Burk
    • Zigui Chen
    • David Mutch
    ResearchOpen Access
    Nature
    Volume: 543, P: 378-384
  • Nanoparticles are a promising approach to increase immunogenicity of protein antigens for vaccines. Here, Brouwer et al. design self-assembling, two-component protein NPs that present native-like SOSIP trimers of HIV envelope protein and determine immunogenicity in a small animal model.

    • Philip J. M. Brouwer
    • Aleksandar Antanasijevic
    • Rogier W. Sanders
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-17
  • Exome sequencing and copy number analysis are used to define genomic aberrations in early sporadic pancreatic ductal adenocarcinoma; among the findings are mutations in genes involved in chromatin modification and DNA damage repair, and frequent and diverse somatic aberrations in genes known as embryonic regulators of axon guidance.

    • Andrew V. Biankin
    • Nicola Waddell
    • Sean M. Grimmond
    Research
    Nature
    Volume: 491, P: 399-405
  • A whole-genome sequencing analysis of 100 pancreatic ductal adenocarcinomas has discovered known and newly identified genetic drivers of pancreatic cancer; these genetic alterations can be classified into four subtypes, which raises the possibility of improved targeting of clinical treatments.

    • Nicola Waddell
    • Marina Pajic
    • Sean M. Grimmond
    Research
    Nature
    Volume: 518, P: 495-501
  • Rebecca Fitzgerald and colleagues report whole-genome sequence analyses of 23 paired samples of Barrett's esophagus and esophageal adenocarcinoma. Their analyses of the clonal architecture of these lesions shows that copy number increases and heterogeneity persists during development of esophageal adenocarcinoma.

    • Caryn S Ross-Innes
    • Jennifer Becq
    • Sarah Dawson
    Research
    Nature Genetics
    Volume: 47, P: 1038-1046
  • Enhanced rock weathering is competitive with other carbon sequestration strategies in terms of land, energy and water use with its overall sustainability dependent on that of the energy system supplying it, according to a process-based life cycle assessment.

    • Rafael M. Eufrasio
    • Euripides P. Kantzas
    • David J. Beerling
    ResearchOpen Access
    Communications Earth & Environment
    Volume: 3, P: 1-13
  • Lakis et al. report novel findings related to the epigenetic landscape of pancreatic neuroendocrine cancer. This relatively large cohort provides functional insights into the epigenetic wiring of pancreatic neuroendocrine tumor sub-types with the potential ability to stratify tumours of different prognosis.

    • Vanessa Lakis
    • Rita T. Lawlor
    • Aldo Scarpa
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-11