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The clinical application of genomic technologies is driving new discoveries that may be relevant to individuals who have previously undergone genetic testing. This Comment highlights the need for a framework to decide whether to recontact patients and inform them of new genetic findings.
A study in Nature describes a CRISPR–Cas9-based ‘molecular recorder’ that can report on cellular state and cell lineage, in mice, from fertilization through to adulthood.
A study of ancient horse genomes, described in Cell, reveals the existence of two now-extinct horse lineages and shows that modern breeding practices reduced genetic diversity in horses.
A study in Science uses experimental and population genomic approaches to examine the molecular underpinnings of evolved pollution resistance in Gulf killifish.
Enthusiasm for patient-specific therapies based on induced pluripotent stem cells (iPSCs) has risen in parallel with rapid advances in genome editing. This Review summarizes the progress in iPSC-based disease modelling over the past decade, with a focus on 3D organoid systems and chimeric models being exploited for new therapeutic approaches.
This Review describes different deep learning techniques and how they can be applied to extract biologically relevant information from large, complex genomic data sets.
Recent next-generation sequencing studies have captured the spatial and temporal evolutionary patterns that shape cancer. This Review provides an overview of the theoretical models of tumour evolution and discusses what to consider when inferring evolutionary dynamics from genomic data.
Transposable elements (TEs) need to be tightly regulated in genomes to prevent the detrimental consequences of transposition. In this Review, Deniz, Frost and Branco discuss how DNA methylation dynamics play a central role in the multilayered epigenetic mechanisms regulating TEs. Beyond roles for 5-methylcytosine (5mC), they discuss TET-mediated oxidation products of 5mC, as well as ongoing debates about the functional relevance of adenine methylation.