Genetics research articles within Nature

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  • Article
    | Open Access

    A meta-analysis of genome-wide association studies for 233 circulating metabolites from 33 cohorts reveals more than 400 loci and suggests probable causal genes, providing insights into metabolic pathways and disease aetiology.

    • Minna K. Karjalainen
    • , Savita Karthikeyan
    •  & Johannes Kettunen

  • Article
    | Open Access

    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

  • Article
    | Open Access

    Analyses of multiregional tumour samples from 421 patients with non-small cell lung cancer prospectively enrolled to the TRACERx study reveal determinants of tumour evolution and relationships between intratumour heterogeneity and clinical outcome.

    • Alexander M. Frankell
    • , Michelle Dietzen
    •  & Charles Swanton

  • Article
    | Open Access

    Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.

    • Mitja I. Kurki
    • , Juha Karjalainen
    •  & Aarno Palotie

  • Article |

    Exome sequence data from 628,388 individuals was used to identify 24 risk loci in 40,208 carriers of clonal haematopoiesis of indeterminate potential and link them to other conditions including COVID-19, cardiovascular disease and cancer.

    • Michael D. Kessler
    • , Amy Damask
    •  & Eric Jorgenson

  • Article |

    The nuclear mitotic apparatus protein NuMA helps to protect genes from oxidative damage by occupying regions around transcription start sites, binding DNA repair factors and promoting transcription following damage.

    • Swagat Ray
    • , Arwa A. Abugable
    •  & Sherif F. El-Khamisy

  • Article
    | Open Access

    Sequencing of individual human lymphocyte clones shows that they are highly prone to mutations, with higher burdens in memory cells than in naive cells arising from mutational processes associated with differentiation and tissue residency.

    • Heather E. Machado
    • , Emily Mitchell
    •  & Peter J. Campbell

  • Article
    | Open Access

    To measure selection on variants, whole-genome sequencing of approximately 150,000 individuals from the UK Biobank is used to rank sequence variants by their level of depletion.

    • Bjarni V. Halldorsson
    • , Hannes P. Eggertsson
    •  & Kari Stefansson

  • Article
    | Open Access

    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

  • Article
    | Open Access

    Whole-exome sequencing analysis of 454,787 individuals in the UK Biobank is used to examine the association of protein-coding variants with nearly 4,000 health-related traits, identifying 564 distinct genes with significant trait associations.

    • Joshua D. Backman
    • , Alexander H. Li
    •  & Manuel A. R. Ferreira

  • Article |

    Whole-genome sequencing analysis of somatic mutations in liver samples from patients with chronic liver disease identifies driver mutations in metabolism-related genes such as FOXO1, and shows that these variants frequently exhibit convergent evolution.

    • Stanley W. K. Ng
    • , Foad J. Rouhani
    •  & Peter J. Campbell

  • Perspective
    | Open Access

    This Perspective discusses how the Somatic Cell Genome Editing Consortium aims to accelerate the implementation of safe and effective genome-editing therapies in the clinic.

    • Krishanu Saha
    • , Erik J. Sontheimer
    •  & Jiangbing Zhou

  • Article |

    Phylogenies of human placental cells based on whole-genome sequencing of bulk samples and microdissections reveal extensive mutagenesis in placental tissue, and suggest that mosaicism is a typical part of normal placental development.

    • Tim H. H. Coorens
    • , Thomas R. W. Oliver
    •  & Sam Behjati

  • Article
    | Open Access

    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

  • Article |

    Whole-genome sequencing analyses of African populations provide insights into continental migration, gene flow and the response to human disease, highlighting the importance of including diverse populations in genomic analyses to understand human ancestry and improve health.

    • Ananyo Choudhury
    • , Shaun Aron
    •  & Neil A. Hanchard

  • Article
    | Open Access

    Single-cell and single-nucleus RNA sequencing are used to construct a cellular atlas of the human heart that will aid further research into cardiac physiology and disease.

    • Monika Litviňuková
    • , Carlos Talavera-López
    •  & Sarah A. Teichmann

  • Article |

    Whole-genome sequencing of normal human endometrial glands shows that most are clonal cell populations and frequently carry cancer driver mutations that occur early in life, and that parity has a protective effect.

    • Luiza Moore
    • , Daniel Leongamornlert
    •  & Michael R. Stratton

  • Article |

    Whole-exome sequencing of colon organoids derived from patients with ulcerative colitis identifies somatic mutations in components of the IL-17 signalling pathway, which may confer a growth advantage to cells under inflammatory conditions.

    • Kosaku Nanki
    • , Masayuki Fujii
    •  & Toshiro Sato

  • Article |

    Whole-genome sequencing of liver microdissections from five healthy individuals and nine with cirrhosis demonstrates the effects of liver disease on the genome, including increased rates of mutation, complex structural variation and different mutational signatures.

    • Simon F. Brunner
    • , Nicola D. Roberts
    •  & Peter J. Campbell

  • Letter
    | Open Access

    Multiple transcriptome approaches, including single-cell sequencing, demonstrate that escape from X chromosome inactivation is widespread and occasionally variable between cells, chromosomes, and tissues, resulting in sex-biased expression of at least 60 genes and potentially contributing to sex-specific differences in health and disease.

    • Taru Tukiainen
    • , Alexandra-Chloé Villani
    •  & Daniel G. MacArthur

  • Article |

    This study reports exome sequencing of samples from 538 individuals with chronic lymphocytic leukaemia (CLL), including 278 collected as part of a prospective clinical trial; recurrently mutated genes are identified and pathways involved in CLL are highlighted, as well as their evolution in progression and disease relapse.

    • Dan A. Landau
    • , Eugen Tausch
    •  & Catherine J. Wu

  • Article |

    A CRISPR-Cas9 approach is used to perform saturating mutagenesis of the human and mouse BCL11A enhancers, producing a map that reveals critical regions and specific vulnerabilities; BCL11A enhancer disruption is validated by CRISPR-Cas9 as a therapeutic strategy for inducing fetal haemoglobin by applying it in both mice and primary human erythroblast cells.

    • Matthew C. Canver
    • , Elenoe C. Smith
    •  & Daniel E. Bauer

  • Letter |

    Two mutations in the gene DCHS1 are shown to cause non-syndromic mitral valve prolapse (MVP), a common cardiac valve disease; understanding the role of DCHS1 in mitral valve development and MVP pathogenesis holds therapeutic potential.

    • Ronen Durst
    • , Kimberly Sauls
    •  & Susan A. Slaugenhaupt

  • Letter |

    Exploring the genetic basis of congenital cataracts in two families identifies a molecule, lanosterol, which prevents intracellular protein aggregation of various cataract-causing mutant crystallins, and which can reduce cataract severity and increase lens transparency in vivo in dogs.

    • Ling Zhao
    • , Xiang-Jun Chen
    •  & Kang Zhang

  • Outlook |

    Epilepsy arises from natural mechanisms in the brain that go awry. Researchers are trying to unravel its complexities.

    • Michael Eisenstein

  • Article |

    Although genetically bland, the posterior fossa group A subgroup of ependymomas, found often in infants and associated with poor prognosis, exhibit widespread epigenetic alterations, namely a CpG island methylator phenotype; these tumours are shown to be susceptible both in vitro and in vivo to various compounds that target epigenetic modifications, such as DNA methylation and H3K27 tri-methylation.

    • S. C. Mack
    • , H. Witt
    •  & M. D. Taylor

  • Letter |

    The O-glycosylation enzyme Galnt11 has an important role in heterotaxy, a disorder of left–right body patterning or laterality: Galnt11 modulates Notch signalling which alters cilia types at the embryonic left–right organizer, therefore determining laterality.

    • Marko T. Boskovski
    • , Shiaulou Yuan
    •  & Mustafa K. Khokha

  • Letter |

    Microbial sequencing of samples obtained from multiple skin sites in healthy human adults shows that core-body and arm sites are dominated by fungal species of the genus Malassezia, whereas foot sites show high fungal diversity, and that skin topography is associated with differential compositions of bacterial and fungal communities.

    • Keisha Findley
    • , Julia Oh
    •  & Julia A. Segre

  • Outlook |

    Recent discoveries are redefining the role of the immune system in psoriasis, and may help to unravel the mystery of the disease's origins.

    • Ken Garber

  • Outlook |

    Solving the riddle of autism genetics will require looking beyond the growing list of candidate genes to epigenetics and personalized medicine.

    • Sarah C. P. Williams

  • Editorial |

    Scientists who screen the genes of volunteers for research should tell participants if they find information relevant to their health.

  • News |

    NIH committee urges that genome study subjects be told of medically relevant results.

    • Erika Check Hayden

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