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Wagner et al. report an organism-wide map of non-coding RNA expression in ageing and rejuvenated mice, identifying a set of broadly deregulated microRNAs that may act as systemic regulators of ageing.
Magda Bienko highlights a landmark paper by Lieberman-Aiden et al., which in 2009 reported the development of high-throughput chromosome conformation capture (Hi-C), revolutionizing the field of 3D genome biology.
This journal club by Elisa Oricchio highlights two studies published in 2012, which used chromatin conformation capture methods to detect the formation of self-interacting chromatin regions, known as topologically associating domains (TADs).
Nandita Garud recalls two seminal papers by Hermisson and Pennings that provide a framework for understanding when adaptation should be gradual versus rapid.
Mutations that affect primary cilia cause ciliopathies with variable severity and expressivity. The diversity of cilia across cell types, tissues and developmental stages enables their function as versatile signalling hubs but may underlie the disconnect between genotype and phenotype. This Review examines the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.
This Review discusses the importance of understanding the mechanisms by which specific allelic variants and allelic combinations cause disease for accurately diagnosing, treating and counselling individuals with genetic disorders.
Variant calling is the process of identifying genetic variants, which is important for characterizing population genetic diversity and for identifying disease-associated variants in clinical sequencing projects. In this Review, the authors discuss the state-of-the-art in variant calling, focusing on challenging types of genetic variants, advances in both sequencing technologies and computational pipelines, and benchmarking strategies to assess the robustness of variant-calling strategies.
