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Showing 1–50 of 1690 results
Advanced filters: Author: Matthew Sanger Clear advanced filters
  • A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.

    • Andrew R. J. Lawson
    • Federico Abascal
    • Iñigo Martincorena
    ResearchOpen Access
    Nature
    P: 1-10
  • This study explores the relationship between telomere length and clonal hematopoiesis. Splicing factor and PPM1D gene mutations are more frequent in people with genetically predicted shorter telomere lengths, suggesting that these mutations protect against the consequences of telomere attrition.

    • Matthew A. McLoughlin
    • Sruthi Cheloor Kovilakam
    • George S. Vassiliou
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 2215-2225
  • 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
  • The regulatory landscape controlling Hoxd gene expression in tetrapod digit development was probably co-opted from a pre-existing cloacal regulatory mechanism, as evidenced by the effects of genetic deletion experiments in zebrafish fin, cloaca and mouse urogenital development.

    • Aurélie Hintermann
    • Christopher C. Bolt
    • Denis Duboule
    ResearchOpen Access
    Nature
    P: 1-8
  • A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

    • Xinhe Zhang
    • Jakob Grove
    • Varun Warrier
    ResearchOpen Access
    Nature
    P: 1-12
  • The PCR step in the preparation of sequencing libraries for the Illumina Genome Analyzer can introduce coverage bias, especially in very (A+T)-rich genomes. By directly annealing template DNA to adapters with sequences needed for attachment in the flow cell, PCR can be omitted as cluster amplification in the flow cell enriches for fully ligated templates.

    • Iwanka Kozarewa
    • Zemin Ning
    • Daniel J Turner
    Research
    Nature Methods
    Volume: 6, P: 291-295
  • During plant cultivation, denitrification process can release greenhouse gas nitrous oxide (N2O) to atmosphere. Here, the authors develop a soybean–bradyrhizobial symbiosis system with enhanced capacity to reduce N2O emissions using the incompatibility between two soybean R genes and their effector present in bradyrhizobia.

    • Hanna Nishida
    • Manabu Itakura
    • Haruko Imaizumi-Anraku
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-13
  • 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
  • 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
  • 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
  • Lineage tracing in mice identifies a subpopulation of basal cells that express Tmprss2 and Nkx3 as the origin of ERG-driven prostate cancer. Upon expansion, these cells show an enrichment for STAT3 chromatin binding and elevated expression of KMT2A and DOT1L as dependencies for ERG oncogenicity.

    • Weiran Feng
    • Erik Ladewig
    • Charles L. Sawyers
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 2177-2191
  • 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
  • FOS has been linked to bone tumour pathogenesis, and viral homologue v-fos causes osteosarcoma in mice. Here, the authors report rearrangement of FOS and its paralogue FOSB in osteoblastoma and osteoid osteoma, revealing human bone tumours that are defined by mutations of FOS and FOSB.

    • Matthew W. Fittall
    • William Mifsud
    • Sam Behjati
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-6
  • 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
  • Hypoimmune gene editing in human pluripotent stem cells (hPSCs) provides a promising platform for cellular therapies. Here, the authors report that CRISPR mediated deletion of ICAM-1 in hPSC-derived grafts reduces immune cell adhesion, dampens T cell activation, and protects against immune rejection.

    • Sayandeep Saha
    • W. John Haynes
    • Matthew E. Brown
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16
  • Whole-genome sequencing analysis of individuals with primary immunodeficiency identifies new candidate disease-associated genes and shows how the interplay between genetic variants can explain the variable penetrance and complexity of the disease.

    • James E. D. Thaventhiran
    • Hana Lango Allen
    • Kenneth G. C. Smith
    Research
    Nature
    Volume: 583, P: 90-95
  • Ni, Wei, Vona and colleagues use human brain organoids to dissect patient AIRIM variants associated with neurodevelopmental features. A subset of variants impaired ribosome production and protein synthesis, and delayed radial glial cell specification.

    • Chunyang Ni
    • Yudong Wei
    • Michael Buszczak
    ResearchOpen Access
    Nature Cell Biology
    Volume: 27, P: 1240-1255
  • Inactivating PPP2R1A mutations correlate with better survival after immune checkpoint blockade in patients with ovarian clear cell carcinoma, suggesting that targeting the phosphatase 2A (PP2A) pathway may represent an effective startegy for improving responses to immunotherapy.

    • Yibo Dai
    • Anne Knisely
    • Amir A. Jazaeri
    ResearchOpen Access
    Nature
    Volume: 644, P: 537-546
  • Wheat stem rust resistance gene Sr6-mediated resistance is enhanced at lower temperatures whereas Sr13 and Sr21 resistances are enhanced at higher temperatures. Here, the authors clone Sr6 and show the divergent molecular pathways governing temperature-dependent resistance among these genes.

    • Tim C. Hewitt
    • Keshav Sharma
    • Matthew N. Rouse
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-13
  • A study of the evolution of the SARS-CoV-2 virus in England between September 2020 and June 2021 finds that interventions capable of containing previous variants were insufficient to stop the more transmissible Alpha and Delta variants.

    • Harald S. Vöhringer
    • Theo Sanderson
    • Moritz Gerstung
    ResearchOpen Access
    Nature
    Volume: 600, P: 506-511
  • C-to-Ψ conversion is a previously uncharacterized form of base editing. Here, the authors describe how the TrcP enzyme catalyzes this process in a stepwise fashion and how this editing process is controlled by a network of modifications and nutrient availability to optimize translation efficiency.

    • Satoshi Kimura
    • Veerasak Srisuknimit
    • Matthew K. Waldor
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15
  • 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
  • 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
  • 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
  • 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
  • Excised signal circles are circular DNA by-products of V(D)J recombination that form a complex with the V(D)J recombinase, and when increased in abundance, result in increased mutagenesis, causing adverse outcomes in cancer.

    • Zeqian Gao
    • James N. F. Scott
    • Joan Boyes
    ResearchOpen Access
    Nature
    Volume: 645, P: 774-783
  • 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
  • Dormant liver stages of Plasmodium vivax complicate malaria elimination efforts by causing relapses that obscure the efficacy of antimalarial treatments. Here, the authors develop a high-throughput amplicon sequencing assay to reconstruct P. vivax lineages, demonstrating its capacity for geospatial infection tracking, and distinguishing recurrent malaria caused by new infections versus untreated dormant liver stages.

    • Mariana Kleinecke
    • Edwin Sutanto
    • Sarah Auburn
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14
  • Analysis of large genomic datasets, including gnomAD, reveals that partial LRRK2 loss of function is not strongly associated with diseases, serving as an example of how human genetics can be leveraged for target validation in drug discovery.

    • Nicola Whiffin
    • Irina M. Armean
    • Daniel G. MacArthur
    ResearchOpen Access
    Nature Medicine
    Volume: 26, P: 869-877
  • Here, the authors functionally characterize a complex genetic variant relevant in prostate cancer that regulates IRX4 expression through epigenetic activation. This work highlights the significance of non-single nucleotide polymorphism causal variants in explaining disease risk.

    • Sandor Spisak
    • Viktoria Tisza
    • Matthew L. Freedman
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.

    • Yuan Yuan
    • Young Seok Ju
    • Christian von Mering
    ResearchOpen Access
    Nature Genetics
    Volume: 52, P: 342-352
  • Chronic infection with SARS-CoV-2 leads to the emergence of viral variants that show reduced susceptibility to neutralizing antibodies in an immunosuppressed individual treated with convalescent plasma.

    • Steven A. Kemp
    • Dami A. Collier
    • Ravindra K. Gupta
    Research
    Nature
    Volume: 592, P: 277-282
  • 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
  • A systematic statistical genetics approach discovers CES drivers as hotspots of human de novo mutation and shows that clonal expansions in germline may both modulate the prevalence of disorders and lead to false-positive disease associations.

    • Vladimir Seplyarskiy
    • Mikhail A. Moldovan
    • Shamil Sunyaev
    Research
    Nature
    P: 1-7
  • Here, Bottery et al show that resistance to next generation antifungals is more likely to occur within azole resistant Aspergillus fumigatus due to the close linkage between a globally distributed azole resistance allele and a DNA repair variant which elevates mutation rates.

    • Michael J. Bottery
    • Norman van Rhijn
    • Michael J. Bromley
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-12
  • In this prespecified exploratory biomarker analysis of the placebo-controlled CheckMate 274 trial, a composite model of adaptive immunity biomarkers and clinical parameters was identified and shown to predict benefit from nivolumab treatment in patients with muscle-invasive urothelial cancer.

    • Matthew D. Galsky
    • Dean F. Bajorin
    • Andrea Necchi
    Research
    Nature Medicine
    Volume: 31, P: 3062-3073