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Genomic studies often rely on individual-based consent approaches for tribal members residing outside of their communities. Tsosie et al. argue that this consent model fails to acknowledge the risks to small groups such as tribes, which can implicate the community as a whole.
New research in Cell describes the technique of ‘DNA microscopy’, in which the spatial distribution of mRNAs is inferred through sequencing DNA tags, without direct visualization.
A study in Nature emphasizes that the diversity of genetic ancestries represented by large-scale genomic studies needs to be increased in order to ensure that their findings — and any resulting advances in health care — are relevant to everyone, regardless of ethnicity.
A recent study in Science demonstrates how capturing gene expression over a developmental time course enables the discovery of dynamic expression quantitative trait loci (eQTLs) that would otherwise be challenging to find.
A study in Nature Methods describes a light-activated dynamic looping (LADL) system, which consists of a synthetic architectural protein that rapidly induces long-range chromatin interactions in response to blue light.
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.
Global genomic diversity can provide new opportunities for discovery and translation into therapies, as well as a better understanding of population disease risks. This Review considers the value of examining diverse populations to better understand genetic contributors to disease risk and trait variation.
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.
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.
