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Somatic genetic rescue (SGR) occurs when an acquired somatic mutation counteracts the effects of a germline mutation at a cellular level. The increasing number of SGR events reported for Mendelian haematopoietic diseases have important diagnostic, therapeutic and clinical consequences.
A new study in Science identifies strong selective pressure on mitochondrial DNA during transmission through the female germ line, as well as an interplay with the nuclear genome that shapes mitochondrial genetic variation.
In this Review, van Rheenen et al. outline how improved methodologies have enabled genetic correlations to be estimated for almost any trait pair. Genetic correlations can improve our understanding of the shared biology and causal relationships between traits.
Two recent studies trace epigenetic marks in cells from patients with chronic lymphocytic leukaemia (CLL) to characterize the evolution of the epigenome in cancer.
Enabled by genome-wide profiling approaches, there is growing appreciation for the prevalence and functional importance of various types of chromatin-associated RNAs. As Li and Fu describe in this Review, these RNAs can either be retained in cis at their site of transcription or recruited in cis to other loci, and they have diverse roles in gene regulation, genome organization, nuclear body formation and phase-separation events.
This Review discusses the current status of expanded carrier screening, including existing recommendations and limitations. The author reviews the framework that is needed for successful comprehensive carrier screening programmes for all autosomal recessive disorders in various populations.
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.
Gene expression is subjected to various random processes (referred to as ‘noise’) that contribute to variability in molecular phenotypes. As Eling, Morgan and Marioni describe, there are various challenges to studying this variability, such as disentangling its multilayered sources, distinguishing it from deterministic influences on cellular variability, modelling it with appropriate statistical methods and understanding its practical consequences.
A study in Science uses experimental and population genomic approaches to examine the molecular underpinnings of evolved pollution resistance in Gulf killifish.
For appropriate control of gene expression, enhancers must communicate with the right target genes at the right time, typically over large genomic distances. In this Review, Schoenfelder and Fraser discuss our latest understanding of long-range enhancer–promoter crosstalk, including target-gene specificity, interaction dynamics, protein and RNA architects of interactions, roles of 3D genome organization and the pathological consequences of regulatory rewiring.
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.
Despite the success of human genome-wide association studies (GWAS) in associating genetic variants and complex diseases or traits, criticisms of the usefulness of this study design remain. This Review assesses the pros and cons of GWAS, with a focus on the cardiometabolic field.
Throughout evolution, DNA has been the primary medium of biological information storage. In this article, Ceze, Nivala and Strauss discuss how DNA can be adopted as a storage medium for custom data, as a potential future complement to current data storage media such as computer hard disks, optical disks and tape. They discuss strategies for coding, decoding and error correction and give examples of implementation both in vitro and in vivo.
An experimental evolution study published in Science demonstrates that non-additive interactions between pollinators (bumblebees) and herbivores (caterpillars) drive rapid evolution in plants.
Two new spatial transcriptomics techniques published in Nature and Science bring us an important step closer to the goal of achieving transcriptome-wide data at single-cell resolution.