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Showing 101–150 of 588 results
Advanced filters: Author: Eric W. Moore Clear advanced filters
  • The authors use artificial intelligence approaches to explore the predictive value of whole exome sequencing in forecasting clinical outcomes following surgery for congenital heart defects. Findings include that damaging genotypes in chromatin-modifying and cilia-related genes are associated with an increased risk of adverse post-operative outcomes such as mortality, cardiac arrest, and prolonged mechanical ventilation.

    • W. Scott Watkins
    • Edgar J. Hernandez
    • Martin Tristani-Firouzi
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-11
  • A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.

    • Ryan L. Collins
    • Harrison Brand
    • Michael E. Talkowski
    ResearchOpen Access
    Nature
    Volume: 581, P: 444-451
  • A genomic constraint map for the human genome constructed using data from 76,156 human genomes from the Genome Aggregation Database shows that non-coding constrained regions are enriched for regulatory elements and variants associated with complex diseases and traits.

    • Siwei Chen
    • Laurent C. Francioli
    • Konrad J. Karczewski
    Research
    Nature
    Volume: 625, P: 92-100
  • PTSD has been associated with DNA methylation of specific loci in the genome, but studies have been limited by small sample sizes. Here, the authors perform a meta-analysis of DNA methylation data from 10 different cohorts and identify CpGs in AHRR that are associated with PTSD.

    • Alicia K. Smith
    • Andrew Ratanatharathorn
    • Caroline M. Nievergelt
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-9
  • 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
  • Dense calcium imaging combined with co-registered high-resolution electron microscopy reconstruction of the brain of the same mouse provide a functional connectomics map of tens of thousands of neurons of a region of the primary cortex and higher visual areas.

    • J. Alexander Bae
    • Mahaly Baptiste
    • Chi Zhang
    ResearchOpen Access
    Nature
    Volume: 640, P: 435-447
  • Using a cryogenic 300-mm wafer prober, a new approach for the testing of hundreds of industry-manufactured spin qubit devices at 1.6 K provides high-volume data on performance, allowing optimization of the complementary metal–oxide–semiconductor (CMOS)-compatible fabrication process.

    • Samuel Neyens
    • Otto K. Zietz
    • James S. Clarke
    ResearchOpen Access
    Nature
    Volume: 629, P: 80-85
  • 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
  • Segmentation accuracy of serial section electron microscopy (ssEM) images can be limited by the step of aligning 2D section images to create a 3D image stack. Here the authors report a computational pipeline for aligning ssEM images and apply this to a whole fly brain dataset.

    • Sergiy Popovych
    • Thomas Macrina
    • H. Sebastian Seung
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-15
  • With redox-linked synthetic biology and electrobiofabrication, electronic information can be transmitted in a bidirectional manner between biology and electronics. Here the authors design an electrogenetic platform that allows real time electronic control of biological functions from proteins and gene circuits to cell consortia.

    • Sally Wang
    • Chen-Yu Chen
    • William E. Bentley
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-17
  • Temporal multi-omic analysis of tissues from rats undergoing up to eight weeks of endurance exercise training reveals widespread shared, tissue-specific and sex-specific changes, including immune, metabolic, stress response and mitochondrial pathways.

    • David Amar
    • Nicole R. Gay
    • Elena Volpi
    ResearchOpen Access
    Nature
    Volume: 629, P: 174-183
  • In this study, Aggarwal and colleagues perform prospective sequencing of SARS-CoV-2 isolates derived from asymptomatic student screening and symptomatic testing of students and staff at the University of Cambridge. They identify important factors that contributed to within university transmission and onward spread into the wider community.

    • Dinesh Aggarwal
    • Ben Warne
    • Ian G. Goodfellow
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-16
  • 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
  • A neuron-specific isoform of PGC-1α is regulated independently from other isoforms and is repressed with age. Here, the authors show PGC-1α is central in a growth and metabolism networks directly relevant to brain aging.

    • Dylan C. Souder
    • Eric R. McGregor
    • Rozalyn M. Anderson
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-18
  • This study reveals sex-dependent dominance reversal across a large autosomal supergene in the rainbow trout, a mechanism for the resolution of sexual conflict in a species that lacks differentiated sex chromosomes.

    • Devon E. Pearse
    • Nicola J. Barson
    • Sigbjørn Lien
    ResearchOpen Access
    Nature Ecology & Evolution
    Volume: 3, P: 1731-1742
  • Neural networks in the brain often exhibit chaotic dynamics that can be captured by a small number of dimensions. Farrell et al. find that recurrent neural networks trained with gradient-based learning rules exhibit similar features. This helps form robust but generalizable input representations.

    • Matthew Farrell
    • Stefano Recanatesi
    • Eric Shea-Brown
    Research
    Nature Machine Intelligence
    Volume: 4, P: 564-573
  • The authors summarize the history of the ENCODE Project, the achievements of ENCODE 1 and ENCODE 2, and how the new data generated and analysed in ENCODE 3 complement the previous phases.

    • Federico Abascal
    • Reyes Acosta
    • Richard M. Myers
    Reviews
    Nature
    Volume: 583, P: 693-698
  • The role of inferotemporal cortex in coding two-dimensional patterns has been extensively studied, but the more difficult problem of three-dimensional shape representation has been relatively unexplored. Yamane and colleagues use new techniques for adaptive stimulus presentation and response modeling to extensively characterize neural coding for three-dimensional objects.

    • Yukako Yamane
    • Eric T Carlson
    • Charles E Connor
    Research
    Nature Neuroscience
    Volume: 11, P: 1352-1360
  • It remains unclear whether exotic and native species are functionally different. Using a global grassland experiment, Seabloomet al. show that native and exotic species respond differently to two globally pervasive environmental changes, addition of mineral nutrients and alteration of herbivore density.

    • Eric W. Seabloom
    • Elizabeth T. Borer
    • Louie Yang
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-8
  • Medulloblastoma is the most common malignant brain tumour in children; having assembled over 1,000 samples the authors report that somatic copy number aberrations are common in medulloblastoma, in particular a tandem duplication of SNCAIP, a gene associated with Parkinson’s disease, which is restricted to subgroup 4α, and translocations of PVT1, which are restricted to Group 3.

    • Paul A. Northcott
    • David J. H. Shih
    • Michael D. Taylor
    ResearchOpen Access
    Nature
    Volume: 488, P: 49-56
  • 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
  • Shifts in species’ migration timing as a result of climate change can result in mismatched temporal overlap with their critical resources. Here the authors show that the magnitude and direction of shifts in juvenile Pacific salmon migration timing vary among species and populations, resulting in variable mismatch with marine productivity, which has implications for climate change vulnerability.

    • Samantha M. Wilson
    • Jonathan W. Moore
    • Garth J. Wyatt
    Research
    Nature Ecology & Evolution
    Volume: 7, P: 852-861
  • Our understanding of the functional link between differential DNA methylation and type 2 diabetes and obesity remains limited. Here the authors present a blood-based EWAS of fasting glucose and insulin among 4808 non-diabetic Europeans and identify nine CpGs not previously implicated in glucose, insulin homeostasis and diabetes.

    • Jun Liu
    • Elena Carnero-Montoro
    • Cornelia M. van Duijn
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-11
  • The Omicron variant evades vaccine-induced neutralization but also fails to form syncytia, shows reduced replication in human lung cells and preferentially uses a TMPRSS2-independent cell entry pathway, which may contribute to enhanced replication in cells of the upper airway. Altered fusion and cell entry characteristics are linked to distinct regions of the Omicron spike protein.

    • Brian J. Willett
    • Joe Grove
    • Emma C. Thomson
    ResearchOpen Access
    Nature Microbiology
    Volume: 7, P: 1161-1179
  • Sera from vaccinated individuals and some monoclonal antibodies show a modest reduction in neutralizing activity against the B.1.1.7 variant of SARS-CoV-2; but the E484K substitution leads to a considerable loss of neutralizing activity.

    • Dami A. Collier
    • Anna De Marco
    • Ravindra K. Gupta
    Research
    Nature
    Volume: 593, P: 136-141
  • The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

    • Moez Dawood
    • Ben Heavner
    • Gabrielle C. Villard
    Reviews
    Nature
    Volume: 647, P: 331-342
  • A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

    • Konrad J. Karczewski
    • Laurent C. Francioli
    • Daniel G. MacArthur
    ResearchOpen Access
    Nature
    Volume: 581, P: 434-443
  • 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 use electronic health record data from the US to characterise post-acute sequelae of SARS-CoV-2 infection (PASC). They identify 17 common PASC conditions and find an overall ~12% increase in risk of PASC conditions in the post-acute period among people with a SARS-CoV-2 positive test compared to matched test-negative controls.

    • Michael A. Horberg
    • Eric Watson
    • Richard Moore
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-13
  • Ribosomes have evolved to polymerize L-α-amino acids into proteins comprising a peptide backbone. Here, a pyridazinone backbone is formed using ribosomes in vitro, producing a variety of sequence-defined alternating block-copolymers.

    • Joongoo Lee
    • Jaime N. Coronado
    • Michael C. Jewett
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-9