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Showing 1–50 of 82 results
Advanced filters: Author: Sean A Clarke Clear advanced filters
  • A night to remember.

    • Sean MacKendrick
    Comments & Opinion
    Nature
  • A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation and sequence variation.

    • Keren Carss
    • Bjarni V. Halldorsson
    • Ole Schulz-Trieglaff
    ResearchOpen Access
    Nature
    Volume: 645, P: 692-701
  • This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

    • Gil A. McVean
    • David M. Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 491, P: 56-65
  • An analysis of 24,202 critical cases of COVID-19 identifies potentially druggable targets in inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).

    • Erola Pairo-Castineira
    • Konrad Rawlik
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 617, P: 764-768
  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74
  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477
  • 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
  • Physical realizations of qubits are often vulnerable to leakage errors, where the system ends up outside the basis used to store quantum information. A leakage removal protocol can suppress the impact of leakage on quantum error-correcting codes.

    • Kevin C. Miao
    • Matt McEwen
    • Yu Chen
    ResearchOpen Access
    Nature Physics
    Volume: 19, P: 1780-1786
  • A genome-wide association study of critically ill patients with COVID-19 identifies genetic signals that relate to important host antiviral defence mechanisms and mediators of inflammatory organ damage that may be targeted by repurposing drug treatments.

    • Erola Pairo-Castineira
    • Sara Clohisey
    • J. Kenneth Baillie
    Research
    Nature
    Volume: 591, P: 92-98
  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073
  • Whole genome sequences enable discovery of rare variants which may help to explain the heritability of common diseases. Here the authors find that ultra-rare variants explain ~50% of coronary artery disease (CAD) heritability and highlight several functional processes including cell type-specific regulatory mechanisms as key drivers of CAD genetic risk.

    • Ghislain Rocheleau
    • Shoa L. Clarke
    • Ron Do
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13
  • A conjunction of ecology and evolution has recently produced offspring — the discipline known as macroecology. This bonny baby takes a large-scale view of the world and finds it full of contradictions.

    • Sean Nee
    News & Views
    Nature
    Volume: 417, P: 229-230
  • 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
  • The goals, resources and design of the NHLBI Trans-Omics for Precision Medicine (TOPMed) programme are described, and analyses of rare variants detected in the first 53,831 samples provide insights into mutational processes and recent human evolutionary history.

    • Daniel Taliun
    • Daniel N. Harris
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 590, P: 290-299
  • 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
  • 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
  • Two below-threshold surface code memories on superconducting processors markedly reduce logical error rates, achieving high efficiency and real-time decoding, indicating potential for practical large-scale fault-tolerant quantum algorithms.

    • Rajeev Acharya
    • Dmitry A. Abanin
    • Nicholas Zobrist
    ResearchOpen Access
    Nature
    Volume: 638, P: 920-926
  • Serological analysis and infection outcomes of participants in the multi-center, prospectively enrolled OCTAVE cohort, comprising 2,686 participants with immune-suppressive diseases who recieved two COVID-19 vaccines, reveals specific clinical phenotypes that might benefit from specific COVID-19 therapeutic strategies.

    • Eleanor Barnes
    • Carl S. Goodyear
    • Deborah Richardson
    ResearchOpen Access
    Nature Medicine
    Volume: 29, P: 1760-1774
  • A study using high-density surface recordings of the speech cortex in a person with limb and vocal paralysis demonstrates real-time decoding of brain activity into text, speech sounds and orofacial movements.

    • Sean L. Metzger
    • Kaylo T. Littlejohn
    • Edward F. Chang
    Research
    Nature
    Volume: 620, P: 1037-1046
  • Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.

    • Andrey Ziyatdinov
    • Jason Torres
    • Roberto Tapia-Conyer
    ResearchOpen Access
    Nature
    Volume: 622, P: 784-793
  • A global dataset of the satellite-tracked movements of pelagic sharks and fishing fleets show that sharks—and, in particular, commercially important species—have limited spatial refuge from fishing effort.

    • Nuno Queiroz
    • Nicolas E. Humphries
    • David W. Sims
    Research
    Nature
    Volume: 572, P: 461-466
  • The authors summarize the data produced by phase III of the Encyclopedia of DNA Elements (ENCODE) project, a resource for better understanding of the human and mouse genomes.

    • Federico Abascal
    • Reyes Acosta
    • Zhiping Weng
    ResearchOpen Access
    Nature
    Volume: 583, P: 699-710
  • A ‘mouse atlas’, comprising single-cell transcriptomic data from more than 100,000 cells from 20 organs and tissues, has been created as a resource for cell biology.

    • Nicholas Schaum
    • Jim Karkanias
    • Tony Wyss-Coray
    Research
    Nature
    Volume: 562, P: 367-372
  • The Impact of Genomic Variation on Function Consortium is combining single-cell mapping, genomic perturbations and predictive modelling to investigate relationships between human genomic variation, genome function and phenotypes and will provide an open resource to the community.

    • Jesse M. Engreitz
    • Heather A. Lawson
    • Ella K. Samer
    Reviews
    Nature
    Volume: 633, P: 47-57
  • A transcriptomics study demonstrates cell-type-specific responses to differentially aged blood and shows young blood to have restorative and rejuvenating effects that may be invoked through enhanced mitochondrial function.

    • Róbert Pálovics
    • Andreas Keller
    • Tony Wyss-Coray
    Research
    Nature
    Volume: 603, P: 309-314
  • The domestication of plants and animals causes genomic changes underlying various morphologic, physiologic and behavioral changes. Here, Naval-Sanchez et al. provide a ChIP-Seq validated comparative functional annotation of the sheep genome, and show widespread evolution of proximal regulatory elements.

    • Marina Naval-Sanchez
    • Quan Nguyen
    • James Kijas
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-13
  • The bicyclic azetidines, a class of potent, well-tolerated antimalarial compounds that is active against multiple stages of the Plasmodium life-cycle, has been discovered following screens against libraries of compounds reminiscent of natural products.

    • Nobutaka Kato
    • Eamon Comer
    • Stuart L. Schreiber
    Research
    Nature
    Volume: 538, P: 344-349
  • COVID-19 can be associated with neurological complications. Here the authors show that markers of brain injury, but not immune markers, are elevated in the blood of patients with COVID-19 both early and months after SARS-CoV-2 infection, particularly in those with brain dysfunction or neurological diagnoses.

    • Benedict D. Michael
    • Cordelia Dunai
    • David K. Menon
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15
  • An integrative genomic analysis of several hundred endometrial carcinomas shows that a minority of tumour samples carry copy number alterations or TP53 mutations and many contain key cancer-related gene mutations, such as those involved in canonical pathways and chromatin remodelling; a reclassification of endometrial tumours into four distinct types is proposed, which may have an effect on patient treatment regimes.

    • Douglas A. Levine
    • Gad Getz
    • Douglas A. Levine
    ResearchOpen Access
    Nature
    Volume: 497, P: 67-73
  • This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

    • Ian Dunham
    • Anshul Kundaje
    • Ewan Birney
    ResearchOpen Access
    Nature
    Volume: 489, P: 57-74
  • 1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

    • Olivier Delaneau
    • Jonathan Marchini
    • Leena Peltonenz
    Research
    Nature Communications
    Volume: 5, P: 1-9
  • This study shows that cancer stem cell in breast tumours have lower levels of reactive oxygen species (ROS) than the rest of the tumour cells. This property renders cancer stem cells less sensitive to radiation therapy, which may cause radioresistance in breast cancer.

    • Maximilian Diehn
    • Robert W. Cho
    • Michael F. Clarke
    Research
    Nature
    Volume: 458, P: 780-783
  • Endometrial cancer is the most common invasive gynaecological cancer in developed countries. Here a meta-analysis identifies an additional nine novel endometrial cancer risk loci and eQTL analysis reveals risk variants associate with reduced expression of negative regulators of oncogenic signal transduction proteins.

    • Tracy A. O’Mara
    • Dylan M. Glubb
    • Deborah J. Thompson
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-12
  • The One Thousand Plant Transcriptomes Initiative provides a robust phylogenomic framework for examining green plant evolution that comprises the transcriptomes and genomes of diverse species of green plants.

    • James H. Leebens-Mack
    • Michael S. Barker
    • Gane Ka-Shu Wong
    ResearchOpen Access
    Nature
    Volume: 574, P: 679-685
  • The discovery is reported of a small molecule drug, GS-5734, which has antiviral activity against Ebola virus and other filoviruses, and is capable of providing post-exposure therapeutic protection against lethal disease in 100% of drug-treated nonhuman primates infected with Ebola virus; the drug targets viral RNA polymerase and can distribute to sanctuary sites (such as testes, eyes and brain), suggesting that it may be able to clear persistent virus infection.

    • Travis K. Warren
    • Robert Jordan
    • Sina Bavari
    Research
    Nature
    Volume: 531, P: 381-385