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  • Large-scale genotyping and phenotyping efforts, including biobanks, have revolutionized our understanding of the genetic architecture of human traits and diseases. Years of ever-larger genome-wide association studies (GWAS) have produced a catalog of genetic variants that contribute to complex traits. A corollary of this research has been the development of personalized polygenic scores (PGS) or polygenic risk scores (PRS).

    Editorial
  • The Qatar Genome Program was established to interrogate the genomics and genetics of populations in the Middle East. Improving precision medicine strategies and building long-term research capacity are both key aims of the initiative.

    • Hamdi Mbarek
    • Said I. Ismail
    Comment
  • It has been 25 years since the release of GATTACA, a film that tells the story of a credible near future in which society’s inequalities, formerly associated with race and class, have been replaced with new prejudices based on genetic determinism. Here we compare GATTACA’s fictional technologies with reality’s state of the art, assessing the legal protections afforded in today’s society against GATTACA’s dystopian future in which personal freedom and privacy rights are substantially curtailed by genomic innovations. We further discuss how GATTACA’s prescient forewarnings are still relevant today in light of the current trajectory of genomic science and technology.

    • Dov Greenbaum
    • Mark Gerstein
    Comment
  • High-throughput experimental platforms have revolutionized the ability to profile biochemical and functional properties of biological sequences such as DNA, RNA and proteins. By collating several data modalities with customizable tracks rendered using intuitive visualizations, genome browsers enable an interactive and interpretable exploration of diverse types of genome profiling experiments and derived annotations. However, existing genome browser tracks are not well suited for intuitive visualization of high-resolution DNA sequence features such as transcription factor motifs. Typically, motif instances in regulatory DNA sequences are visualized as BED-based annotation tracks, which highlight the genomic coordinates of the motif instances but do not expose their specific sequences. Instead, a genome sequence track needs to be cross-referenced with the BED track to identify sequences of motif hits. Even so, quantitative information about the motif instances such as affinity or conservation as well as differences in base resolution from the consensus motif are not immediately apparent. This makes interpretation slow and challenging. This problem is compounded when analyzing several cellular states and/or molecular readouts (such as ATAC-seq and ChIP–seq) simultaneously, as coordinates of enriched regions (peaks) and the set of active transcription factor motifs vary across cell states.

    • Surag Nair
    • Arjun Barrett
    • Anshul Kundaje
    Comment
  • Many large research initiatives have cumulatively enrolled thousands of patients with a range of complex medical issues but no clear genetic etiology. However, it is unclear how researchers, institutions and funders should manage the data and relationships with those participants who remain undiagnosed when these studies end. In this Comment, we outline the current literature relevant to post-study obligations in clinical genomics research and discuss the application of current guidelines to research with undiagnosed participants.

    • Meghan C. Halley
    • Euan A. Ashley
    • Holly K. Tabor
    Comment
  • In this issue of Nature Genetics, we celebrate the legacy of Gregor Mendel, who was born 200 years ago. We also note the 30th anniversary of the launch of Nature Genetics. The convergence of these two milestones helps us to look back on how far the genetics field has come, and also to look to the future to see where we are heading.

    Editorial
  • Thirty years ago, I had the privilege of launching Nature Genetics, the first spin-off journal bearing the famous Nature logo. Spurred on by the Human Genome Project, there were high hopes for the new journal and indeed the future of human genetics. But there was little expectation that we would launch a science publishing franchise of more than 30 sister journals — or be able to therapeutically rewrite the faulty genomes of patients. Here, I reflect on the humble beginnings of Nature Genetics and 30 years of progress in genetics.

    • Kevin Davies
    Comment