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Two studies use targeted sequencing to identify features of clonal haematopoiesis that may predict the risk of developing acute myeloid leukaemia years before diagnosis.
One in four UK adults over the age of 65 suffers from loneliness. An analysis of UK Biobank data has identified 15 genomic loci associated with loneliness and reports a possible causal link between obesity and loneliness and depression.
A study in Nature Biomedical Engineering reports improvements in neurological symptoms in a mouse model of fragile X syndrome after non-viral delivery of Cas9 ribonucleoproteins to the brain.
A paper in Nature Genetics reports a high-quality reference genome for the koala, with insights into its specialized lifestyle, and potential applications in vaccine development and conservation strategies.
Many eukaryotic proteins, including key transcription regulators, contain intrinsically disordered regions (IDRs), which serve as flexible interaction platforms. The molecular understanding of IDR-based interactions is now emerging, providing new insights into how IDRs promote protein compartmentalization and/or phase separation and how these processes regulate gene expression.
Virtually all studies depend on annotations, maps of the genome that catalogue gene loci and the sequences of their transcripts. This Review discusses the state of currently available long non-coding RNA annotations and the impact of emerging technologies such as long-read sequencing.
High-throughput sequencing technologies have enabled comparative analysis of large numbers of diverse bacterial genomes. Such studies are providing insights into the genomic changes that accompany changes in host specificity, with possible implications for controlling transmission of pathogenic bacteria.
Various types of observational studies can provide statistical associations between factors, such as between an environmental exposure and a disease state. This Review discusses the various genetics-focused statistical methodologies that can move beyond mere associations to identify (or refute) various mechanisms of causality, with implications for responsibly managing risk factors in health care and the behavioural and social sciences.
Polygenic risk profiling can lead to actionable outcomes for individuals at high risk of developing a subset of common adult-onset polygenic diseases. The authors review recent studies that have demonstrated the utility of polygenic risk scores for disease risk stratification and their potential impact on early disease detection, prevention, therapeutic intervention and life planning.
