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Showing 1–50 of 74 results
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  • Oat is an important food crop, but the genetic diversity within the gene pool remains unclear. Here, the authors report the analyses of worldwide diversity and population structure of hexaploid oat, and identify signatures of structural rearrangements within the germplasm collection.

    • Wubishet A. Bekele
    • Raz Avni
    • Nicholas A. Tinker
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14
  • A genome-wide association meta-analysis study of blood lipid levels in roughly 1.6 million individuals demonstrates the gain of power attained when diverse ancestries are included to improve fine-mapping and polygenic score generation, with gains in locus discovery related to sample size.

    • Sarah E. Graham
    • Shoa L. Clarke
    • Cristen J. Willer
    Research
    Nature
    Volume: 600, P: 675-679
  • What is the state of trust in scientists around the world? To answer this question, the authors surveyed 71,922 respondents in 68 countries and found that trust in scientists is moderately high.

    • Viktoria Cologna
    • Niels G. Mede
    • Rolf A. Zwaan
    ResearchOpen Access
    Nature Human Behaviour
    Volume: 9, P: 713-730
  • 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
  • The characterization of 4,645 whole-genome and 19,184 exome sequences, covering most types of cancer, identifies 81 single-base substitution, doublet-base substitution and small-insertion-and-deletion mutational signatures, providing a systematic overview of the mutational processes that contribute to cancer development.

    • Ludmil B. Alexandrov
    • Jaegil Kim
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 94-101
  • 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
  • Analyses of 2,658 whole genomes across 38 types of cancer identify the contribution of non-coding point mutations and structural variants to driving cancer.

    • Esther Rheinbay
    • Morten Muhlig Nielsen
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 102-111
  • Integrative analyses of transcriptome and whole-genome sequencing data for 1,188 tumours across 27 types of cancer are used to provide a comprehensive catalogue of RNA-level alterations in cancer.

    • Claudia Calabrese
    • Natalie R. Davidson
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 129-136
  • Viral pathogen load in cancer genomes is estimated through analysis of sequencing data from 2,656 tumors across 35 cancer types using multiple pathogen-detection pipelines, identifying viruses in 382 genomic and 68 transcriptome datasets.

    • Marc Zapatka
    • Ivan Borozan
    • Christian von Mering
    ResearchOpen Access
    Nature Genetics
    Volume: 52, P: 320-330
  • Whole-genome sequencing data for 2,778 cancer samples from 2,658 unique donors across 38 cancer types is used to reconstruct the evolutionary history of cancer, revealing that driver mutations can precede diagnosis by several years to decades.

    • Moritz Gerstung
    • Clemency Jolly
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 122-128
  • In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.

    • Yiqun Zhang
    • Fengju Chen
    • Christian von Mering
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-14
  • The CD47/SIRPα axis is well known to mediate immune escape by promoting cancer resistance to phagocytosis. Here the authors show that low CD47-expressing prostate cancer cells still allow phagocytosis but the process is incomplete leading to the formation of macrophage:tumor hybrid cells with immune evasive and pro-metastatic properties.

    • Chih-Wei Chou
    • Chia-Nung Hung
    • Tim Hui-Ming Huang
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-20
  • 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
  • Experimental measurements of high-order out-of-time-order correlators on a superconducting quantum processor show that these correlators remain highly sensitive to the quantum many-body dynamics in quantum computers at long timescales.

    • Dmitry A. Abanin
    • Rajeev Acharya
    • Nicholas Zobrist
    ResearchOpen Access
    Nature
    Volume: 646, P: 825-830
  • 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
  • Inbreeding depression has been observed in many different species, but in humans a systematic analysis has been difficult so far. Here, analysing more than 1.3 million individuals, the authors show that a genomic inbreeding coefficient (FROH) is associated with disadvantageous outcomes in 32 out of 100 traits tested.

    • David W Clark
    • Yukinori Okada
    • James F Wilson
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-17
  • 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
  • High-coverage and low-coverage genomic data for some of the earliest modern humans in Europe provide insights into recent admixture with Neanderthals and familial relationship links with distant communities approximately 45,000 years ago.

    • Arev P. Sümer
    • Hélène Rougier
    • Johannes Krause
    ResearchOpen Access
    Nature
    Volume: 638, P: 711-717
  • Genome-wide association studies (GWAS) have become a key tool to discover genetic markers for complex traits; however, environmental factors that interact with genes are rarely considered. Here, the authors conduct a GWAS of obesity traits, and find that smoking may alter genetic susceptibilities.

    • Anne E. Justice
    • Thomas W. Winkler
    • L Adrienne Cupples
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-19
  • Passive immunisation for respiratory syncytial virus for infants is recommended by the World Health Organization but products currently available have limited duration of protection. Here, the authors investigate the age distribution of infant hospitalisation for respiratory syncytial virus to inform optimal timing of immunisation.

    • Ling Guo
    • Sebastien Kenmoe
    • Eva Molero
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-13
  •  A transcriptomic cell-type atlas of the whole adult mouse brain with ~5,300 clusters built from single-cell and spatial transcriptomic datasets with more than eight million cells reveals remarkable cell type diversity across the brain and unique cell type characteristics of different brain regions. 

    • Zizhen Yao
    • Cindy T. J. van Velthoven
    • Hongkui Zeng
    ResearchOpen Access
    Nature
    Volume: 624, P: 317-332
  • 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
  • Literature produced inconsistent findings regarding the links between extreme weather events and climate policy support across regions, populations and events. This global study offers a holistic assessment of these relationships and highlights the role of subjective attribution.

    • Viktoria Cologna
    • Simona Meiler
    • Amber Zenklusen
    ResearchOpen Access
    Nature Climate Change
    Volume: 15, P: 725-735
  • 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
  • Low read depth sequencing of whole genomes and high read depth exomes of nearly 10,000 extensively phenotyped individuals are combined to help characterize novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with lipid-related traits; in addition to describing population structure and providing functional annotation of rare and low-frequency variants the authors use the data to estimate the benefits of sequencing for association studies.

    • Klaudia Walter
    • Josine L. Min
    • Weihua Zhang
    ResearchOpen Access
    Nature
    Volume: 526, P: 82-90
  • Stem rust is an important disease of wheat and resistance present in some cultivars can be suppressed by the SuSr-D1 locus. Here the authors show that SuSr-D1 encodes a subunit of the Mediator Complex and that nonsense mutations are sufficient to abolish suppression and confer stem rust resistance.

    • Colin W. Hiebert
    • Matthew J. Moscou
    • Wolfgang Spielmeyer
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-10
  • Birthweight has been found to associate with later-life health outcomes. Here the authors perform a meta-analysis of epigenome-wide association studies of 8,825 neonates from 24 birth cohorts in the Pregnancy And Childhood Epigenetics Consortium, identifying differentially methylated CpGs in neonatal blood that associate with birthweight.

    • Leanne K. Küpers
    • Claire Monnereau
    • Janine F. Felix
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-11
  • An analysis of 16 health-related quantitative traits in approximately 350,000 individuals reveals statistically significant associations between genome-wide homozygosity and four complex traits (height, lung function, cognitive ability and educational attainment); in each case increased homozygosity associates with a decreased trait value, but no evidence was seen of an influence on blood pressure, cholesterol, or ten other cardio-metabolic traits.

    • Peter K. Joshi
    • Tonu Esko
    • James F. Wilson
    Research
    Nature
    Volume: 523, P: 459-462
  • Environmental factors can influence one's susceptibility to cancer, but it is not clear whether such an influence extends beyond the directly exposed generations. Here, feeding pregnant rats with a high-fat diet or a hormone derivative, the authors observe increased breast cancer risk in up to three subsequent generations.

    • Sonia de Assis
    • Anni Warri
    • Leena Hilakivi-Clarke
    ResearchOpen Access
    Nature Communications
    Volume: 3, P: 1-9
  • Here we describe an open collaborative effort termed the ‘Ruminant T2T Consortium’. It aims to generate complete diploid assemblies for many species of ruminants to examine chromosomal evolution in the context of natural selection and domestication.

    • Theodore S. Kalbfleisch
    • Stephanie D. McKay
    • Benjamin D. Rosen
    Reviews
    Nature Genetics
    Volume: 56, P: 1566-1573
  • Non-radiative recombination loss suppression is critical for boosting performance of organic solar cells. Here, the authors regulate self-organization of bulk-heterojunction in a non-monotonic manner, and achieve device efficiency over 19% with low non-radiative recombination loss down to 0.168 eV.

    • Jiehao Fu
    • Patrick W. K. Fong
    • Gang Li
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-11
  • Photoinduced non-adiabatic intramolecular processes have important applications but their mechanisms are challenging to explore. Here the authors detect and assign vibrational wavepacket dynamics in a Fe carbene complex by ultrafast X-ray emission spectroscopy and X-ray scattering, resolving nuclear and electronic motion.

    • Kristjan Kunnus
    • Morgane Vacher
    • Kelly J. Gaffney
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-11
  • Wolfram syndrome, caused by WFS1 or CISD2 gene mutations, disrupts ER Ca2+ regulation in neurons. Here, the authors show how these mutations impair ER-mitochondria interactions, compromise Ca2+ transfer and mitochondrial function, and lead to bioenergetic deficits and oxidative stress.

    • Mailis Liiv
    • Annika Vaarmann
    • Allen Kaasik
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-18
  • John Perry and colleagues report the results of a large genome-wide association study meta-analysis to identify variants influencing age at natural menopause. They identify 54 independent signals and find enrichment near genes involved in delayed puberty and DNA damage response.

    • Felix R Day
    • Katherine S Ruth
    • Anna Murray
    Research
    Nature Genetics
    Volume: 47, P: 1294-1303
  • 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
  • Aarno Palotie and colleagues present results of a large genome-wide association study of migraine. They identified significant associations at 38 distinct loci and found enrichment for genes expressed in vascular and smooth muscle tissues.

    • Padhraig Gormley
    • Verneri Anttila
    • Aarno Palotie
    Research
    Nature Genetics
    Volume: 48, P: 856-866
  • 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
  • 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
  • Turajlic and colleagues assess longitudinal antibody and cellular immune responses against SARS-CoV-2 variants of concern in patients with cancer, following either recovery from SARS-CoV-2 infection or vaccination, in two back-to-back reports from the CAPTURE study.

    • Annika Fendler
    • Lewis Au
    • Samra Turajlic
    ResearchOpen Access
    Nature Cancer
    Volume: 2, P: 1321-1337
  • 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
  • The effects of genetic variation on DNA methylation patterns are poorly understood. Here, Shi et al.systematically map methylation-quantitative trait loci in lung, breast and kidney tissue to reveal the impact of inherited variation on the human methylome, which also affects cancer risk.

    • Jianxin Shi
    • Crystal N. Marconett
    • Maria Teresa Landi
    Research
    Nature Communications
    Volume: 5, P: 1-11
  • Severe congenital development defects such as Jeune syndrome can result from the malfunction of primary cilia and dynein. Here Schmidts et al. report unique biallelic null mutations in a gene encoding a dynein light chain, helping to explain the nature of ciliopathies in human patients.

    • Miriam Schmidts
    • Yuqing Hou
    • Hou-Feng Zheng
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-14