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Electronic health records (EHRs) linked to biobanks provide new opportunities for developing and applying polygenic risk scores in the clinic. The authors review the opportunities and challenges that arise when using EHR data for the systematic evaluation of patient disease susceptibilities.
With the increasing availability of ancient genomes from the same region or locality, the field of human history has started to address sociocultural aspects of human behaviour. The authors review recent case studies reconstructing the social consequences of past human migrations and advocate that this complex enterprise should be addressed by multidisciplinary teams.
Pollinators are critical for food security but bees, in particular, have experienced worrying population declines in recent years. This Review discusses how genomic technologies can be used to monitor and improve the health of managed and wild bee populations.
This Review outlines a broad, universal framework for systems biology applied to infectious disease research. From study design and omics data collection, analysis, visualization and interpretation to translational outcomes, the authors illustrate how systems biology can provide insights into host–pathogen relationships for the betterment of human health.
RNA interference (RNAi) effector proteins have highly conserved roles in chromosome function. This Review traces the evolutionary history of RNAi components and discusses their lesser-known roles in regulating chromosome segregation, gene dosage and DNA damage resolution, from unicellular eukaryotes to mammals.
Adeno-associated virus (AAV) vector-mediated gene delivery has had long-term therapeutic effects for several diseases, including haemophilia and Duchenne muscular dystrophy. Genetically modifying AAV vectors to increase their transduction efficiency, vector tropism and ability to avoid the host immune response may further increase the success of AAV gene therapy.
Although single reference genomes are valuable resources, they do not capture genetic diversity among individuals. Sherman and Salzberg discuss the concept of ‘pan-genomes’, which are reference genomes that encompass the genetic variation within a given species. Focusing particularly on large eukaryotic pan-genomes, they describe the latest progress, the varied methodological approaches and computational challenges, as well as applications in fields such as agriculture and human disease.
In this Review, Gasperini, Tome and Shendure discuss the evolving definitions of transcriptional enhancers, as well as diverse modern experimental tools to identify them. The authors describe how these diverse mindsets and methods provide differing but complementary insights into enhancers, each with notable strengths and caveats. They discuss how such views and approaches might be combined in a comprehensive catalogue of functional enhancers.
The pathology of heritable human traits and diseases often affects a narrow range of tissues, even when causal genes are expressed widely across the body. In this Review, Hekselman and Yeger-Lotem discuss the latest understanding of tissue specificity in human traits and disease, including the diverse underlying molecular mechanisms, experimental and bioinformatics resources to leverage omics data, and implications for understanding disease aetiology.