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Three new studies identify different types of de novo and somatic mutations associated with autism spectrum disorder (ASD), with potential insights into underlying molecular mechanisms.
Chew et al. report in Nature Communications that short histone H2A variants are upregulated in a wide range of cancers, indicating that they become oncohistones when aberrantly expressed.
In this study in Molecular Cell, Clarke et al. describe a system that enables multiple Cas9-mediated genome edits to be introduced into cells in a defined, sequential order.
In this paper in Nature Genetics, Atkinson et al. describe Tractor, a statistical framework and software package that enables admixed populations to be included in large-scale genomics studies.
Park and colleagues describe in Nature Medicine a ‘genome-first’ approach to associate rare predicted loss-of-function genetic variants from whole-exome sequencing data with clinical phenotypes from electronic health records.
A study in Nature reports that adenine base editors can correct the mutation that causes Hutchinson–Gilford progeria syndrome in a mouse model of this disease, extending lifespan.
A report in Science describes in situ genome sequencing (IGS), a method that enables genomes to be simultaneously sequenced and imaged in intact samples, including early mouse embryos. IGS will facilitate insight into the relationship between genome sequence and organization.
A study in Nature Genetics applies whole-genome sequencing to monozygotic twins, their parents, partners and offspring to identify and characterize early developmental mutations, as well as the fate of mutated cells.
Infectious diseases are an ever-present global threat. In this Review, Kwok, Mentzer and Knight discuss our latest understanding of how human genetics influence susceptibility to disease. Furthermore, they discuss emerging progress in the interplay between host and pathogen genetics, molecular responses to infection and vaccination, and opportunities to bring these aspects together for rapid responses to emerging diseases such as COVID-19.
In this Review, Oudelaar and Higgs discuss the relationship between genome structure and gene regulation, with a focus on whether genome organization has an instructive role or largely reflects the activity of regulatory elements.
The ability to reprogramme cellular translation and genomes to produce non-canonical biopolymers has wide-ranging applications, including in therapeutics, but has yet to be fully realized. In this Review, de la Torre and Chin discuss recent advances towards achieving this goal.
RNA-binding proteins (RBPs) are critical effectors of gene expression, and their malfunction underlies many diseases. The authors review the role of RBPs in human genetic disorders, both Mendelian and somatic, discuss the molecular mechanisms of disease and highlight emerging therapeutic interventions that target RBPs.
