Research Highlights in 2019

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  • A large-scale single-cell genomics study of planktonic bacteria and archaea that inhabit the surface ocean broadens insights into the heterogeneity and genomic composition of this marine microbiome.

    • Linda Koch
    Research Highlight
  • A study in Cell identifies a mechanism by which exon splicing can increase gene expression through the activation of weak upstream promoters.

    • Joseph Willson
    Research Highlight
  • A new study in Science has mapped regulatory elements for major cell types of the human brain to help elucidate the transcriptional mechanisms underlying their developmental and functional properties in health and disease.

    • Linda Koch
    Research Highlight
  • Two new studies report advances for nanopore-based long-read sequencing for characterizing complex human transcriptomes and for analysing human repetitive DNA regions.

    • Darren J. Burgess
    Research Highlight
  • A new study has identified genetic determinants of mosaic loss of chromosome Y (LOY) in leukocytes that are also associated with increased risk of various non-haematological cancers, suggesting LOY in blood is a biomarker of genome instability in other tissues.

    • Dorothy Clyde
    Research Highlight
  • Two papers in Nature Plants provide evidence that plants, like mammals, regulate gene expression from long-range cis-regulatory elements (CREs). Plant CREs are widespread and have distinct evolutionarily conserved chromatin characteristics that are predictive of their effect on gene expression.

    • Dorothy Clyde
    Research Highlight
  • Two studies in Nature Genetics provide high-resolution maps of genetic variation across melon and watermelon species, respectively, and identify candidate loci linked to fruit quality traits through genome-wide association studies and population genomic analyses.

    • Linda Koch
    Research Highlight
  • A new study provides the largest whole-genome sequence data set in an African population to date and shows that genetic causes of disease might be different in African and European populations.

    • Rebecca Kelsey
    Research Highlight
  • Mohammadi et al. report the development of ANEVA–ANEVA-DOT, a statistical model that quantifies variation in gene dosage, and demonstrate its potential for identifying genes harbouring rare pathogenic variants.

    • Conor A. Bradley
    Research Highlight
  • A new study in Cell reports a mammalian genetic screening strategy that combines CRISPR libraries with in situ sequencing to read out both complex cellular phenotypes and genetic perturbations using microscopy.

    • Darren J. Burgess
    Research Highlight
  • A new genome editing strategy called prime editing uses a catalytically impaired Cas9 fused to an engineered reverse transcriptase to write desired genetic sequence information directly into a target locus.

    • Linda Koch
    Research Highlight
  • A new study in Cell reports that sense-strand Piwi-interacting RNAs have an important role in protecting the germline genome from invading retroviruses.

    • Dorothy Clyde
    Research Highlight
  • A study in Nature retraces the convergent evolution of resistance to cardiac glycosides in insects, pinpointing the adaptive alleles and their functional consequences.

    • Linda Koch
    Research Highlight
  • A new study in Science reports a synthetic biology approach to encode an ultrasound-based gene expression reporter that is applicable to mammalian cells in vitro and in vivo.

    • Darren J. Burgess
    Research Highlight
  • A study in Science describes the generation of a lineage-resolved single-cell transcriptome atlas for Caenorhabditis elegans embryos. This resource provides insight into the transcriptional changes underlying cell fate decisions.

    • Dorothy Clyde
    Research Highlight
  • A recent study in Nature Microbiology reports metagenomic signatures of early-life antibiotic treatment and hospitalization associated with preterm birth that persist long-term.

    • Linda Koch
    Research Highlight
  • Two new studies in Science survey diversity in malarial Plasmodium species, assessing genetic diversity across Africa, as well as transcriptomic diversity through the pathogen life cycle.

    • Darren J. Burgess
    Research Highlight
  • Two recent studies report innovative RNA base editing tools: adenine editing without the requirement for exogenous enzymes, and a new ability to edit cytosines.

    • Darren J. Burgess
    Research Highlight