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Xu et al. report the development of genetic scores that predict multi-omic traits, enabling cost-effective and powerful analyses for studies that do not include multi-omics data.
A paper in Cell introduces the EN-TEx resource, a detailed catalogue of allele-specific activity that can be used to develop deep learning models that analyse the biological impact of genetic variants.
A new study in Science reports the mechanism through which TDP-43 enables correct processing of STMN2 mRNA, and proposes strategies to restore neuronal Stathmin-2 synthesis in TDP-43 proteinopathies.
Arutyunyan et al. describe a spatially resolved, single-cell multi-omics map of the entire maternal–fetal interface in the first trimester of human pregnancy.
In this Journal club, Meritxell Huch recalls a dogma postulated by Hayflick in 1961, that the capacity for propagating primary epithelial cells with normal ploidy is limited — a theory that persisted until the advent of organoid cultures.
Julio Collado-Vides recalls two 2005 publications that provide a conceptual framework based on a statistical thermodynamics approach to quantitatively model the regulatory activity at promoters subject to regulation by multiple transcription factors.
In this Review, Munir Pirmohamed provides an overview of the current state of the pharmacogenomics field, using examples of clinically relevant drug–gene associations, before outlining the steps needed for implementation of pharmacogenomics into clinical practice. The role of pharmacogenomics in drug discovery and development is also considered.
The ability to map DNA and RNA modifications has improved our understanding of these marks, but in some cases inconsistent results have been problematic. Here, Kong et al. discuss how to recognize and resolve issues associated with commonly used sequencing-based approaches to minimize mapping errors.
Macroautophagy and microautophagy involve characteristic membrane dynamics regulated by autophagy-related proteins to degrade cytoplasmic material in lysosomes. In this Review, the authors summarize recent progress in elucidating these highly conserved processes, the pathological relevance of autophagy-related genes in Mendelian and complex diseases, and the evolution of the autophagy pathway.
The vast combinatorial sequence space of RNAs has prohibited quantitative mapping from nucleotide sequence to structure and function. New biochemical methods in vitro, which carry out measurements on hundreds of thousands of molecules at the same time, are now beginning to solve this issue.
