Medical genomics articles within Nature

Featured

  • Article
    | Open Access

    Population-scale whole-genome sequencing across four remote Indigenous Australian communities reveals a large fraction of structural variants that are unique to these populations, emphasizing the genetic distinctiveness of and diversity among Indigenous Australians.

    • Andre L. M. Reis
    • , Melissa Rapadas
    •  & Ira W. Deveson

  • Article
    | Open Access

    Analysis of the genomes of 159 individuals from four Indigenous communities in Australia shows a high level of genetic variation and demonstrates the need for greater representation of Indigenous Australians in reference panels and clinical databases.

    • Matthew Silcocks
    • , Ashley Farlow
    •  & Stephen Leslie

  • Article |

    Genome-wide analysis of tandem DNA repeats in the genomes of individuals with autism spectrum disorder and control participants reveals a strong contribution of tandem repeat expansions to the genetic aetiology and phenotypic complexity of autism spectrum disorder.

    • Brett Trost
    • , Worrawat Engchuan
    •  & Ryan K. C. Yuen

  • Article
    | Open Access

    A novel variant annotation metric that quantifies the level of expression of genetic variants across tissues is validated in the Genome Aggregation Database (gnomAD) and is shown to improve rare variant interpretation.

    • Beryl B. Cummings
    • , Konrad J. Karczewski
    •  & Daniel G. MacArthur

  • Article
    | Open Access

    A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.

    • Konrad J. Karczewski
    • , Laurent C. Francioli
    •  & Daniel G. MacArthur

  • Article
    | Open Access

    The African Genome Variation Project contains the whole-genome sequences of 320 individuals and dense genotypes on 1,481 individuals from sub-Saharan Africa; it enables the design and interpretation of genomic studies, with implications for finding disease loci and clues to human origins.

    • Deepti Gurdasani
    • , Tommy Carstensen
    •  & Manjinder S. Sandhu

  • Article |

    Family-based exome sequencing in a large autism study has identified 27 high-confidence gene targets and accurately estimates the contribution of both de novo gene-disrupting and missense mutations to the incidence of simplex autism, with target genes in affected females overlapping those in males of lower but not higher IQ; targets also overlap known targets for intellectual disability and schizophrenia, and are enriched for chromatin modifiers, FMRP-associated genes and embryonically expressed genes.

    • Ivan Iossifov
    • , Brian J. O’Roak
    •  & Michael Wigler

  • Letter |

    The authors perform saturation mutagenesis of genomic regions in their native endogenous chromosomal context by using CRISPR/Cas9 RNA-guided cleavage and multiplex homology-directed repair; its utility is demonstrated by measuring the effects of hundreds to thousands of genomic edits to BRCA1 and DBR1 on splicing and cellular fitness, respectively.

    • Gregory M. Findlay
    • , Evan A. Boyle
    •  & Jay Shendure

  • Outlook |

    A massive research collaboration is revealing hundreds of genes underlying schizophrenia risk, and may point the way to targeted treatments.

    • Jessica Wright

  • Editorial |

    To make progress in clinical genomics, institutions must work out how to pass on data.

  • Editorial |

    Ten years after the human genome was sequenced, its promise is still to be fulfilled.

  • Opinion |

    Genomic data will soon become a commodity; the next challenge — linking human genetic variation with physiology and disease — will be as great as the one genomicists faced a decade ago, says J. Craig Venter.

    • J. Craig Venter

  • Opinion |

    Looking back over the past decade of human genomics, Francis Collins finds five key lessons for the future of personalized medicine — for technology, policy, partnerships and pharmacogenomics.

    • Francis Collins

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