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The successful implementation of genomic newborn screening involves a wide array of ethical, legal and social implications of great complexity. The authors outline key decision points and highlight a GA4GH policy tool to support responsible, trustworthy implementation within diverse public health systems globally.
In this Tools of the Trade article, Qin Wu discusses the development of SPARK-seq (single-cell perturbation-driven aptamer recognition and kinetics sequencing), a method that enables high-throughput identification of aptamer–target pairs.
In this Journal Club, Hodkinson and Larschan recall a 2002 paper by Meller and Rattner that used the power of Drosophila genetics to demonstrate the integral role of long non-coding RNAs in dosage compensation.
In this Journal Club, Daniel Masiga recalls a 1986 publication by C. H. Green, which revealed how colour and odour cues influence tsetse fly (Glossina spp.) attraction, and a 2019 study by Attardo et al. on genomic insights across six Glossina species, advancing understanding of vector behaviour and control.
Campbell and Goyal discuss a recent study by Rossine et al., which introduces a synthetic plasmid system that experimentally separates within-cell from between-cell selection, revealing multilevel evolutionary conflict and addressing questions first posed by Szathmáry and Smith in 1995.
Proteoforms are the diverse protein molecules produced from a single gene whose primary sequence and composition can be diversified by genetic, transcriptomic, translational and post-translational variation. This Review synthesizes technologies and network approaches to map, quantify and functionally characterize proteoforms, outlining routes to proteoform-guided biomarkers and therapeutics
Genome-wide association studies of increasing scale have revealed the prevalence of pleiotropic genetic variants that affect multiple traits. In this Review, the authors overview the statistical methods and approaches used to identify these pleiotropic genetic variants and dissect how they contribute to shared mechanisms of diseases.
Kay et al. review evidence that parental care, and more complex social behaviour based on parental care, evolved in multiple species through the repeated co-option of members of a pleiotropic molecular network regulating the ancestral processes of feeding, growth and reproduction.
CRISPR-based genome editing therapeutics are entering the clinic, but in vitro and in vivo tools are needed to assess their safety and efficacy. The authors review complementary technologies to monitor the biological effects of genome editing across scales, including the direct measurement of editing outcomes in DNA, human microphysiological systems and non-invasive in vivo imaging.