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Share your Tools of the Trade
Are you an early-career researcher who helped develop a cool tool or method? Would you like others to learn about it? Let us know! Our Tools of the Trade articles showcase new computational or technological advancements in genetics and genomics. Email nrg@nature.com with a link to the paper on your method/tool and a few words on the gap that it fills.
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This online collection on RNA splicing by Nature Reviews Genetics and Nature Reviews Molecular Cell Biology showcases novel biological insights facilitated by recent technological and computational advances.
Finding it hard to navigate the flood of scientific literature? The Nature Reviews journals filter and highlight the most impactful research. Take a look at this animation to learn how Nature Reviews Genetics can help you stay up-to-date, and visit Nature Reviews for more.
Morris discusses how single-cell genomics and computational tools expose failure points in reprogramming and guide protocols that improve the fidelity, maturity and purity of engineered cells, advancing their use in regenerative medicine and disease modelling.
This article reviews the current state of implementation of polygenic risk scores in the clinical setting, highlights key challenges and outlines future directions for the use of such scores to improve disease risk prediction and to enable personalized prevention.
Recent advances in forensic genetics have improved the range, precision and reliability of forensic information obtainable from biological trace material. The author reviews how non-targeted and targeted omics approaches and methods are improving crime scene analyses being applied for the identification of perpetrators and their relatives or victims, the prediction of phenotypic traits, and the determination of trace characteristics.
Spatial omics has empowered the discovery of developmental and disease-associated molecular signatures, cell states and multicellular niches, as well as the evaluation of disease heterogeneity within and across organs. The authors review spatially resolved molecular changes across diseases and discuss the potential of spatial multi-omics for clinical applications, including the recent impact of artificial intelligence.
Haplotype phasing and genotype imputation improve genomic analyses by determining which variants occur together on a chromosome and inferring unobserved varants, respectively. In this Review, Sun and Li describe how tools for haplotype phasing and genotype imputation have evolved to accommodate increasingly larger genomic datasets and new sequencing technologies.
Jean Fan recounts a 2015 paper by Martincorena et al. that revealed oncogenic mutations in normal tissues, also highlighting how the latest spatial technologies can now be used to study the spatial contextual impact of these mutations.
Microorganisms are central to climate stability, food security and biodiversity, yet they remain absent from global sustainability frameworks. In this Comment, Nicole Webster highlights the power of eco-evolutionary genomics in transforming sustainability science and calls for the inclusion of microbes in global policies.
In this Journal Club, Tzachi Hagai highlights a 2005 paper by Sawyer et al. that tested the functional relationship of evolutionary changes in immune genes with infection outcomes.
Sara Suliman describes a seminal 2013 publication by Comas et al. that investigated the origins of the tuberculosis-causing bacteria and its coevolution with diverse human populations.
Gerald Mboowa reflects on the dual legacy of a 2021 study by Frangoul et al., which demonstrated safe and effective CRISPR-based editing to treat sickle-cell disease and β-thalassemia, as both a triumph of modern science and a call to action for global health.
In this Comment, the authors overview the latest deep learning models for predicting regulatory function from genomic sequence and highlight key topics going forward, including the trade-off between specialized and general models, multitasking across cell types, and training on genetic variation and diverse species.
Long-read sequencing has transformed genetics and genomics. With this technology, genomic studies can illuminate previously inaccessible regions, such as repetitive DNA and large structural variants; transcriptomic studies can resolve full-length transcripts and complex isoforms; and epigenomic studies can gain additional information from directly sequencing the DNA or RNA molecule. Nature Reviews Genetics presents an online collection that showcases recent technological developments and the biological insights that have followed.