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Showing 1–50 of 82 results
Advanced filters: Author: Julia Daly Clear advanced filters
  • Double Asteroid Redirection Test (DART) mission impacted Dimorphos to test asteroid deflection. Here, the authors show that post-impact spectra largely match pre-impact properties, with only subtle variations probably linked to mutual events and to the evolution of the ejecta dust.

    • Monica Lazzarin
    • Fiorangela La Forgia
    • Andrew S. Rivkin
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-14
  • Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.

    • Sanna Gudmundsson
    • Moriel Singer-Berk
    • Anne O’Donnell-Luria
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14
  • 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
  • Estimates from the Global Dietary Database indicated that 2.2 million new type 2 diabetes and 1.2 million new cardiovascular disease cases were attributable to sugar-sweetened beverages worldwide in 2020, with the highest burdens in sub-Saharan Africa, Latin America and the Caribbean.

    • Laura Lara-Castor
    • Meghan O’Hearn
    • Rubina Hakeem
    ResearchOpen Access
    Nature Medicine
    Volume: 31, P: 552-564
  • A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

    • Vassily Trubetskoy
    • Antonio F. Pardiñas
    • Jim van Os
    Research
    Nature
    Volume: 604, P: 502-508
  • 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
  • Food biodiversity is likely to benefit both human health and agrifood systems. To assess food biodiversity, this epidemiological study proposes the use of dietary species richness, which is highly heterogeneous—both between and within countries—and is associated with lower rates of mortality in Europe and similar levels of micronutrient adequacy in low- and middle-income countries, as opposed to other classical indices.

    • Giles T. Hanley-Cook
    • Jill Deygers
    • Carl Lachat
    Research
    Nature Food
    Volume: 6, P: 577-586
  • A genome-wide study by the Long COVID Host Genetics Initiative identifies an association between the FOXP4 locus and long COVID, implicating altered lung function in its pathophysiology.

    • Vilma Lammi
    • Tomoko Nakanishi
    • Hanna M. Ollila
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 1402-1417
  • Ann Daly and colleagues report results of a genome-wide association study to identify common variants associated with drug-induced liver injury due to flucloxacillin. They show that carriers of the HLA-B*5701 allele in the MHC region are at 80-fold increased risk of developing this severe adverse drug reaction.

    • Ann K Daly
    • Peter T Donaldson
    • Christopher P Day
    Research
    Nature Genetics
    Volume: 41, P: 816-819
  • 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
  • Data collected from more than 2,000 taxa provide an unparalleled opportunity to quantify how extreme wildfires affect biodiversity, revealing that the largest effects on plants and animals were in areas with frequent or recent past fires and within extensively burnt areas.

    • Don A. Driscoll
    • Kristina J. Macdonald
    • Ryan D. Phillips
    ResearchOpen Access
    Nature
    Volume: 635, P: 898-905
  • A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

    • Michael H. Guo
    • Laurent C. Francioli
    • Kaitlin E. Samocha
    Research
    Nature Genetics
    Volume: 56, P: 152-161
  • 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
  • Interdecadal modes of tropical Pacific ocean-atmosphere circulation have a strong influence on global temperature. Here, the authors present a 2000-year hydroclimate record from the Indo-Pacific, which suggests that century-scale variations in these modes are also linked with global temperature variability.

    • Michael L. Griffiths
    • Alena K. Kimbrough
    • Wahyoe S. Hantoro
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-9
  • Achieving a high quality of life within the biophysical limits of the planet is a significant challenge. This study quantifies the resource use associated with meeting basic human needs, compares it to downscaled planetary boundaries for over 150 nations and finds that no country meets its citizens’ basic needs sustainably.

    • Daniel W. O’Neill
    • Andrew L. Fanning
    • Julia K. Steinberger
    Research
    Nature Sustainability
    Volume: 1, P: 88-95
  • The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

    • Pradeep Natarajan
    • Akhil Pampana
    • Gina M. Peloso
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-14
  • 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
  • Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

    • Fergus J. Couch
    • Karoline B. Kuchenbaecker
    • Antonis C. Antoniou
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-13
  • Genome wide association studies in cancer are used to understand the heritable genetic contribution to disease risk. Here, the authors perform a genome wide association study in European patients with acute myeloid leukemia and identify loci associated with risk of developing the disease.

    • Wei-Yu Lin
    • Sarah E. Fordham
    • James M. Allan
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10
  • Post-traumatic stress disorder (PTSD) is a common mental health problem. Here, the authors report a GWAS from the Psychiatric Genomics Consortium in which they identify two risk loci in European ancestry and one locus in African ancestry individuals and find that PTSD is genetically correlated with several other psychiatric traits.

    • Caroline M. Nievergelt
    • Adam X. Maihofer
    • Karestan C. Koenen
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16
  • Stratified medicine promises to tailor treatment for individual patients, however it remains a major challenge to leverage genetic risk data to aid patient stratification. Here the authors introduce an approach to stratify individuals based on the aggregated impact of their genetic risk factor profiles on tissue-specific gene expression levels, and highlight its ability to identify biologically meaningful and clinically actionable patient subgroups, supporting the notion of different patient ‘biotypes’ characterized by partially distinct disease mechanisms.

    • Lucia Trastulla
    • Georgii Dolgalev
    • Michael J. Ziller
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-28
  • 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 combination of proteomics, metagenome-assembled genomes and heterologous gene expression experiments reveals a trophic system for carbon utilization in the moose rumen microbiome and provides insights into phage dynamics in this ecosystem.

    • Lindsey M. Solden
    • Adrian E. Naas
    • Kelly C. Wrighton
    ResearchOpen Access
    Nature Microbiology
    Volume: 3, P: 1274-1284
  • Efforts to address the water challenges that societies face are hindered by a lack of funding and ineffective implementation, as well as poor understanding of the causes. Adopting a beyond growth framing, this Perspective reflects on the responses needed to mitigate water crises around the world.

    • R. Quentin Grafton
    • Safa Fanaian
    • John Williams
    Reviews
    Nature Sustainability
    Volume: 8, P: 11-21
  • Over 170 susceptibility loci have been identified by genome-wide association studies in breast cancer. Here, the authors interrogated the role of risk-associated variants from non-breast tissue, and using expression quantitative trait loci, identify potential target genes of known breast cancer susceptibility variants, as well as 11 regions not previously known to be associated with breast cancer risk.

    • Manuel A. Ferreira
    • Eric R. Gamazon
    • Georgia Chenevix-Trench
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-18
  • Analysis of rare coding variants in the UK Biobank identifies eight genes associated with adult cognitive function, including KDM5B. Rare and common variant signals overlap and contribute additively to the phenotype.

    • Chia-Yen Chen
    • Ruoyu Tian
    • Heiko Runz
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 927-938
  • 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
  • Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

    • Nolan Kamitaki
    • Aswin Sekar
    • Steven A. McCarroll
    Research
    Nature
    Volume: 582, P: 577-581
  • Most of the more than 200 known genetic risk loci for inflammatory bowel disease (IBD) reside in regulatory regions. Here, the authors provide eQTL datasets for six circulating immune cell types and ileal, colonic and rectal biopsies to map regulatory modules and identify potential causative genes for IBD.

    • Yukihide Momozawa
    • Julia Dmitrieva
    • Michel Georges
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-18
  • A genome-wide-association meta-analysis of 18,381 austim spectrum disorder (ASD) cases and 27,969 controls identifies five risk loci. The authors find quantitative and qualitative polygenic heterogeneity across ASD subtypes.

    • Jakob Grove
    • Stephan Ripke
    • Anders D. Børglum
    Research
    Nature Genetics
    Volume: 51, P: 431-444
  • Circulating lipoprotein(a) is an important risk factor for cardiovascular disease and shows variability between different ethnic groups. Here, Zekavat et al. perform whole-genome sequencing in individuals of European and African ancestries and find ancestry-specific genetic determinants for lipoprotein(a) levels.

    • Seyedeh M. Zekavat
    • Sanni Ruotsalainen
    • Sebastian Zoellner
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-14
  • Relatives of patients with amyotrophic lateral sclerosis have an unexpectedly high incidence of schizophrenia. Here, the authors show a genetic link between the two conditions, suggesting shared neurobiological mechanisms.

    • Russell L. McLaughlin
    • Dick Schijven
    • Michael C. O’Donovan
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12
  • 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
  • Levels of circulating thyrotropin and free thyroxine reflect thyroid function, however, their genetic underpinnings remain poorly understood. Taylor et al. take advantage of whole-genome sequence data from cohorts within the UK10K project to identify novel variants associated with these traits.

    • Peter N. Taylor
    • Eleonora Porcu
    • Pingbo Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-11
  • Imputation uses genotype information from SNP arrays to infer the genotypes of missing markers. Here, the authors show that an imputation reference panel derived from whole-genome sequencing of 3,781 samples from the UK10K project improves the imputation accuracy and coverage of low frequency variants compared to existing methods.

    • Jie Huang
    • Bryan Howie
    • Nicole Soranzo
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9
  • Schizophrenia is a highly heritable genetic disorder, however, identification of specific genetic risk variants has proven difficult because of its complex polygenic nature—a large multi-stage genome-wide association study identifies 128 independent associations in over 100 loci (83 of which are new); key findings include identification of genes involved in glutamergic neurotransmission and support for a link between the immune system and schizophrenia.

    • Stephan Ripke
    • Benjamin M. Neale
    • Michael C. O’Donovan
    Research
    Nature
    Volume: 511, P: 421-427
  • Population-based genome sequencing provides an increasingly rich resource for the identification of low-frequency, large effect variants associated with clinically important phenotypes. Timpson et al. use UK10K data to identify a variant of the APOC3gene strongly associated with plasma triglyceride levels.

    • Nicholas J. Timpson
    • Klaudia Walter
    • Hou-Feng Zheng
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-11