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Showing 101–150 of 463 results
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  • The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

    • Barbara Franke
    • Jason L Stein
    • Patrick F Sullivan
    Research
    Nature Neuroscience
    Volume: 19, P: 420-431
  • The European X-ray FreeElectron Laser Facility generates ultrashort hard X-ray pulses with megahertz repetition rate. Here, the authors probe the dynamics of dense antibody protein (Ig-PEG) solutions using megahertz X-ray photon correlation spectroscopy at the European XFEL.

    • Mario Reiser
    • Anita Girelli
    • Christian Gutt
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-10
  • Patricia Munroe, Christopher Newton-Cheh, Andrew Morris and colleagues perform association studies in over 340,000 individuals of European ancestry and identify 66 loci, of which 17 are novel, involved in blood pressure regulation. The risk SNPs are enriched for cis-regulatory elements, particularly in vascular endothelial cells.

    • Georg B Ehret
    • Teresa Ferreira
    • Patricia B Munroe
    Research
    Nature Genetics
    Volume: 48, P: 1171-1184
  • Whole-genome sequence data for 108 individuals representing 28 language groups across Australia and five language groups for Papua New Guinea suggests that Aboriginal Australians and Papuans diverged from Eurasian populations approximately 60–100 thousand years ago, following a single out-of-Africa dispersal and subsequent admixture with archaic populations.

    • Anna-Sapfo Malaspinas
    • Michael C. Westaway
    • Eske Willerslev
    Research
    Nature
    Volume: 538, P: 207-214
  • 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
  • Alison Dunning, Stacey Edwards and colleagues analyze 3,872 common variants across the ESR1 locus in 118,816 women. They find five independent variants within regulatory regions that associate with different breast cancer–related phenotypes and regulate the expression of ESR1, RMND1 and CCDC170.

    • Alison M Dunning
    • Kyriaki Michailidou
    • Stacey L Edwards
    Research
    Nature Genetics
    Volume: 48, P: 374-386
  • A multi-modal analysis of pre-metastatic liver biopsies from patients with localized pancreatic cancer with a minimum of 3 years of follow-up shows that immunological, proliferative and metabolomic features distinguish patients who develop metastases from disease-free survivors and can be used to predict outcomes.

    • Linda Bojmar
    • Constantinos P. Zambirinis
    • David Lyden
    Research
    Nature Medicine
    Volume: 30, P: 2170-2180
  • Fuchs endothelial corneal dystrophy (FECD) is one of the most common reasons for corneal transplantation, and is known to cluster in families. Here, the authors discover new genetic loci associated with FECD with sex-specific effects and implications for disease mechanism.

    • Natalie A. Afshari
    • Robert P. Igo Jr
    • Sudha K. Iyengar
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-8
  • This study presents an extensive molecular characterization of the reprograming process by analysis of transcriptomic, epigenomic and proteomic data sets describing the routes to pluripotency; it finds distinct routes towards two stable pluripotent states characterized by distinct epigenetic events.

    • Samer M. I. Hussein
    • Mira C. Puri
    • Andras Nagy
    Research
    Nature
    Volume: 516, P: 198-206
  • Repetto et al. provide an analysis of the genetic basis of variation of neuro-related protein levels in plasma and link this to human behaviour and disorders.

    • Linda Repetto
    • Jiantao Chen
    • Xia Shen
    Research
    Nature Human Behaviour
    Volume: 8, P: 2222-2234
  • Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

    • Edith Hofer
    • Gennady V. Roshchupkin
    • Sudha Seshadri
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16
  • The role of IFN signaling in SARS-CoV-2 infection and outcome is still debated. Here, the authors longitudinally profiled plasma samples from hospitalized patients and show that a persistent inflammatory response is linked to delayed generation of adaptive immunity and increased risk of death when coupled with severe infection.

    • Elsa Brunet-Ratnasingham
    • Sacha Morin
    • Daniel E. Kaufmann
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-19
  • Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of European, east Asian, south Asian and Mexican and Mexican American ancestry. They identify seven loci newly associated with type 2 diabetes and examine the genetic architecture of disease across populations.

    • Anubha Mahajan
    • Min Jin Go
    • Andrew P Morris
    Research
    Nature Genetics
    Volume: 46, P: 234-244
  • Genetic variants at multiple loci of chr5p15.33 have been associated with susceptibility to numerous cancers. Here the authors show that the association of one of these loci may be explained by a variant, rs36115365, influencing telomerase reverse transcriptase (TERT) expression via ZNF148.

    • Jun Fang
    • Jinping Jia
    • Laufey T. Amundadottir
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-17
  • Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate susceptibility genes, including OBFC1.

    • Catherine M Phelan
    • Karoline B Kuchenbaecker
    • Paul D P Pharoah
    Research
    Nature Genetics
    Volume: 49, P: 680-691
  • The authors introduce a machine-learning framework that predicts how materials respond to electric fields with quantum-level accuracy, capturing vibrational, dielectric, and ferroelectric behaviors up to the million-atom scale.

    • Stefano Falletta
    • Andrea Cepellotti
    • Boris Kozinsky
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-12
  • A study reports that the structural maturation of the matrix domain of the Gag protein of HIV-1 is induced by the proteolytic release and binding of the spacer peptide SP2.

    • James C. V. Stacey
    • Dominik Hrebík
    • John A. G. Briggs
    ResearchOpen Access
    Nature
    Volume: 640, P: 258-264
  • Past genome-wide associate studies have identified hundreds of genetic loci that influence body size and shape when examined one trait at a time. Here, Jeff and colleagues develop an aggregate score of various body traits, and use meta-analysis to find new loci linked to body shape.

    • Janina S. Ried
    • Janina Jeff M.
    • Ruth J. F. Loos
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-11
  • A comprehensive evaluation of memorization across datasets, including training samples and patient data copies, shows that latent diffusion models can memorize a diverse set of medical images with varying properties.

    • Salman Ul Hassan Dar
    • Marvin Seyfarth
    • Sandy Engelhardt
    Research
    Nature Biomedical Engineering
    P: 1-15
  • Claudia Langenberg, James Meigs and colleagues apply a joint meta-analysis approach that accounts for differences in body mass index to identify variants associated with glycemic traits. They report six new loci associated with fasting insulin levels and provide insights into the genetic basis of insulin resistance.

    • Alisa K Manning
    • Marie-France Hivert
    • Claudia Langenberg
    Research
    Nature Genetics
    Volume: 44, P: 659-669
  • A diverse, multidisciplinary panel of 386 experts in COVID-19 response from 112 countries provides health and social policy actions to address inadequacies in the pandemic response and help to bring this public health threat to an end.

    • Jeffrey V. Lazarus
    • Diana Romero
    • Anne Øvrehus
    ResearchOpen Access
    Nature
    Volume: 611, P: 332-345
  • Low total energy expenditure (TEE) has been a hypothesized risk factor for weight gain, but longitudinal repeatability of TEE is incompletely understood. Here the authors report that TEE is repeatable for adults, but not for children, and increases in TEE (adjusted for fat-free mass, fat mass, age and sex) are not associated with body composition changes in short-term longitudinal analyses.

    • Rebecca Rimbach
    • Yosuke Yamada
    • John R. Speakman
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-8
  • The Cancer Genome Atlas presents an integrative genome-wide analysis of genetic alterations in 279 head and neck squamous cell carcinomas (HNSCCs), which are classified by human papillomavirus (HPV) status; alterations in EGFR, FGFR, PIK3CA and cyclin-dependent kinases are shown to represent candidate targets for therapeutic intervention in most HNSCCs.

    • Michael S. Lawrence
    • Carrie Sougnez
    • Wendell G. Yarbrough
    ResearchOpen Access
    Nature
    Volume: 517, P: 576-582
  • Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.

    • Hanna M. Ollila
    • Eilon Sharon
    • Emmanuel J. Mignot
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • 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
  • A genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.

    • Erik L. Bao
    • Satish K. Nandakumar
    • Vijay G. Sankaran
    Research
    Nature
    Volume: 586, P: 769-775
  • Analysis of HbA1c and FPG levels across 117 population-based studies demonstrates regional variation in prevalence of previously undiagnosed screen-detected diabetes using one or both measures and suggests that use of elevated FPG alone could underestimate diabetes prevalence in low- and middle-income countries.

    • Bin Zhou
    • Kate E. Sheffer
    • Majid Ezzati
    ResearchOpen Access
    Nature Medicine
    Volume: 29, P: 2885-2901
  • The hippocampus in mammalian brain varies in size across individuals. Here, Hibar and colleagues perform a genome-wide association meta-analysis to find six genetic loci with significant association to hippocampus volume.

    • Derrek P. Hibar
    • Hieab H. H. Adams
    • M. Arfan Ikram
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12
  • The MAGIC investigators report results of a large genome-wide association study meta-analysis to identify common variants influencing fasting glucose homeostasis. They further show that several of the newly discovered loci influencing glycemic traits are also associated with risk of type 2 diabetes.

    • Josée Dupuis
    • Claudia Langenberg
    • Inês Barroso
    Research
    Nature Genetics
    Volume: 42, P: 105-116
  • 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
  • Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.

    • Claudia L. Satizabal
    • Hieab H. H. Adams
    • M. Arfan Ikram
    Research
    Nature Genetics
    Volume: 51, P: 1624-1636
  • Metal surfaces have long been known to reconstruct, but key mechanistic aspects are poorly understood. Here, the authors use Bayesian force fields to gain insights into gold surface reconstructions that are crucial for material science and catalysis.

    • Cameron J. Owen
    • Yu Xie
    • Boris Kozinsky
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13
  • TMEM127 is a tumor suppressor protein, loss of which predisposes to catecholamine-secreting tumors. Here the authors show that TMEM127 expression is modulated by nutritional status and that it has a role in regulating organismal insulin sensitivity.

    • Subramanya Srikantan
    • Yilun Deng
    • Patricia L. M. Dahia
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-17
  • DNA from tumour cells can be detected in the blood of cancer patients. Here, the authors show that cell free DNA fragmentation patterns can identify lung cancer patients and when this information is further interrogated it can be used to predict lung cancer histological subtype.

    • Dimitrios Mathios
    • Jakob Sidenius Johansen
    • Victor E. Velculescu
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14
  • A machine learning approach is used to analyse multi-omics (proteomics, metabolomics and transcriptomics) data, producing genetic scores for more than 17,000 biomolecular traits in human blood, and identifying possible associations with disease.

    • Yu Xu
    • Scott C. Ritchie
    • Michael Inouye
    Research
    Nature
    Volume: 616, P: 123-131
  • An assessment of the habitat of native vertebrate species burnt by the 2019–2020 Australian mega-fires shows that 70 taxa were severely affected.

    • Michelle Ward
    • Ayesha I. T. Tulloch
    • James E. M. Watson
    Research
    Nature Ecology & Evolution
    Volume: 4, P: 1321-1326
  • The paper presents a method that allows scaling machine learning interatomic potentials to extremely large systems, while at the same time retaining the remarkable accuracy and learning efficiency of deep equivariant models. This is obtained with an E(3)- equivariant neural network architecture that combines the high accuracy of equivariant neural networks with the scalability of local methods.

    • Albert Musaelian
    • Simon Batzner
    • Boris Kozinsky
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-15