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Showing 1–50 of 524 results
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  • Head and neck squamous cell carcinoma (HNSCC) frequency and risk factors vary considerably across regions and ancestries. Here, the authors conduct a multi-ancestry genome-wide association study and fine mapping study of HNSCC subsites in cohorts from multiple continents, finding susceptibility and protective loci, gene-environment interactions, and gene variants related to immune response.

    • Elmira Ebrahimi
    • Apiwat Sangphukieo
    • Tom Dudding
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-18
  • A global research network monitoring the Amazon for 30 years reports in this study that tree size increased by 3% each decade.

    • Adriane Esquivel-Muelbert
    • Rebecca Banbury Morgan
    • Oliver L. Phillips
    ResearchOpen Access
    Nature Plants
    P: 1-10
  • 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
  • 2023 CX1 is the only L-chondrite-like asteroid analysed from space to ground. It catastrophically fragmented in the atmosphere, depositing 98% of its energy in one burst—an unusual, high-risk fragmentation mode with implications for planetary defence.

    • Auriane Egal
    • Denis Vida
    • Peter Jenniskens
    Research
    Nature Astronomy
    P: 1-14
  • 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
  • A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

    • Loïc Yengo
    • Sailaja Vedantam
    • Joel N. Hirschhorn
    ResearchOpen Access
    Nature
    Volume: 610, P: 704-712
  • 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
  • Precise control of charge and spin states in quantum dots is often challenging. Here, the authors show systematic manipulation of the electron occupation in graphene nanoribbons laying on MgO.

    • Amelia Domínguez-Celorrio
    • Leonard Edens
    • David Serrate
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-8
  • Here the authors apply machine learning approaches to Alzheimer’s genetics, confirm known associations and suggest novel risk loci. These methods demonstrate predictive power comparable to traditional approaches, while also offering potential new insights beyond standard genetic analyses.

    • Matthew Bracher-Smith
    • Federico Melograna
    • Valentina Escott-Price
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-16
  • Wood density is a key control on tree biomass, and understanding its spatial variation improves estimates of forest carbon stock. Sullivan et al. measure >900 forest plots to quantify wood density and produce high resolution maps of its variation across South American tropical forests.

    • Martin J. P. Sullivan
    • Oliver L. Phillips
    • Joeri A. Zwerts
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-12
  • Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

    • Andrew R Wood
    • Tonu Esko
    • Timothy M Frayling
    Research
    Nature Genetics
    Volume: 46, P: 1173-1186
  • In wildlife tagging, stress from capture and handling can alter post- release behavior and potentially study interpretations. This study of 42 mammal species shows that these effects diminish within 4–7 days, and quicker for animals in high human activity areas indicating adaptation to disturbance.

    • Jonas Stiegler
    • Cara A. Gallagher
    • Niels Blaum
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13
  • Analysis of soundscape data from 139 globally distributed sites reveals that sounds of biological origin exhibit predictable rhythms depending on location and season, whereas sounds of anthropogenic origin are less predictable. Comparisons between paired urban–rural sites show that urban green spaces are noisier and dominated by sounds of technological origin.

    • Panu Somervuo
    • Tomas Roslin
    • Otso Ovaskainen
    ResearchOpen Access
    Nature Ecology & Evolution
    Volume: 9, P: 1585-1598
  • Reduced glomerular filtration rate (eGFR) is a hallmark of chronic kidney disease. Here, Pattaro et al. conduct a meta-analysis to discover several new loci associated with variation in eGFR and find that genes associated with eGFR loci often encode proteins potentially related to kidney development.

    • Cristian Pattaro
    • Alexander Teumer
    • Caroline S. Fox
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-19
  • A trans-ancestry meta-analysis of GWAS of glycemic traits in up to 281,416 individuals identifies 99 novel loci, of which one quarter was found due to the multi-ancestry approach, which also improves fine-mapping of credible variant sets.

    • Ji Chen
    • Cassandra N. Spracklen
    • Cornelia van Duijn
    Research
    Nature Genetics
    Volume: 53, P: 840-860
  • Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

    • Céline Bellenguez
    • Fahri Küçükali
    • Jean-Charles Lambert
    ResearchOpen Access
    Nature Genetics
    Volume: 54, P: 412-436
  • Ancient DNA analysis of early European farmers has found a high level of genetic affinity with present-day Sardinians. Here, the authors generate genome-wide capture data for 70 individuals from Sardinia spanning the Middle Neolithic to Medieval period to reveal relationships with mainland European populations shifting over time.

    • Joseph H. Marcus
    • Cosimo Posth
    • John Novembre
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-14
  • A genetic study identifies hundreds of loci associated with risk tolerance and risky behaviors, finds evidence of substantial shared genetic influences across these phenotypes, and implicates genes involved in neurotransmission.

    • Richard Karlsson Linnér
    • Pietro Biroli
    • Jonathan P. Beauchamp
    Research
    Nature Genetics
    Volume: 51, P: 245-257
  • From 1980 to 2018, the levels of total and non-high-density lipoprotein cholesterol increased in low- and middle-income countries, especially in east and southeast Asia, and decreased in high-income western countries, especially those in northwestern Europe, and in central and eastern Europe.

    • Cristina Taddei
    • Bin Zhou
    • Majid Ezzati
    ResearchOpen Access
    Nature
    Volume: 582, P: 73-77
  • Similarities in cancers can be studied to interrogate their etiology. Here, the authors use genome-wide association study summary statistics from six cancer types based on 296,215 cases and 301,319 controls of European ancestry, showing that solid tumours arising from different tissues share a degree of common germline genetic basis.

    • Xia Jiang
    • Hilary K. Finucane
    • Sara Lindström
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-23
  • A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

    • Kate Lawrenson
    • Siddhartha Kar
    • Simon A. Gayther
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-22
  • A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

    • Aniket Mishra
    • Rainer Malik
    • Stephanie Debette
    ResearchOpen Access
    Nature
    Volume: 611, P: 115-123
  • A comparison of alpha diversity (number of plant species) and dark diversity (species that are currently absent from a site despite being ecologically suitable) demonstrates the negative effects of regional-scale anthropogenic activity on plant diversity.

    • Meelis Pärtel
    • Riin Tamme
    • Martin Zobel
    ResearchOpen Access
    Nature
    Volume: 641, P: 917-924
  • 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 bacterium Helicobacter pylori, often found in the human stomach, can be classified into distinct subpopulations associated with the geographic origin of the host. Here, the authors provide insights into H. pylori population structure by collecting over 1,000 clinical strains from 50 countries and generating and analyzing high-quality bacterial genome sequences.

    • Kaisa Thorell
    • Zilia Y. Muñoz-Ramírez
    • Charles S. Rabkin
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-16
  • 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
  • Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (dys)function and create a pathogenicity-severity variant classifier.

    • Stefan Groeneweg
    • Ferdy S. van Geest
    • W. Edward Visser
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-21
  • Reference assemblies of great ape sex chromosomes show that Y chromosomes are more variable in size and sequence than X chromosomes and provide a resource for studies on human evolution and conservation genetics of non-human apes.

    • Kateryna D. Makova
    • Brandon D. Pickett
    • Adam M. Phillippy
    ResearchOpen Access
    Nature
    Volume: 630, P: 401-411
  • An analysis involving the shotgun sequencing of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary.

    • Morten E. Allentoft
    • Martin Sikora
    • Eske Willerslev
    ResearchOpen Access
    Nature
    Volume: 625, P: 301-311
  • Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine mapping and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants is enriched for overlap with FOXA2 binding sites in human islet and liver cells, and they show that a likely causal variant near MTNR1B increases FOXA2-bound enhancer activity, providing a molecular mechanism to explain the effect of this locus on disease risk.

    • Kyle J Gaulton
    • Teresa Ferreira
    • Andrew P Morris
    Research
    Nature Genetics
    Volume: 47, P: 1415-1425
  • 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
  • Lipid concentration in the serum is one of the most important risk factors for coronary artery disease and can be targeted for therapeutic intervention. A genome-wide association study in >100,000 individuals of European ancestry now finds 95 significantly associated loci that also affect lipid traits in non-European populations. Among associated loci are those involved in cholesterol metabolism, known targets of cholesterol-lowering drugs and those that contribute to normal variation in lipid traits and to extreme lipid phenotypes.

    • Tanya M. Teslovich
    • Kiran Musunuru
    • Sekar Kathiresan
    Research
    Nature
    Volume: 466, P: 707-713