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Irene Gallego Romero recalls a landmark publication by Rosenberg et al., which reported on the fine-scale structure within and between human populations.
Two new studies of mutations linked to distinct neurological conditions — autism spectrum disorders (ASD) and tuberous sclerosis complex (TSC) — use human brain organoids to identify mutation-driven alterations to cell lineage trajectories during early brain development.
Two recent studies published in Nature Biotechnology describe the engineering of circularized guide RNAs, which allow for programmable RNA base editing in vivo, with vastly improved editing efficiency and durability.
Michael Purugganan reflects on a 100-year-old publication by Nikolai Vavilov, which postulated a new law of genetics from which key evolutionary insights emerged and which guided future molecular genetic investigations.
Using whole-genome sequencing and haplotype tracking, Viluma et al. show that the small, highly inbred Scandinavian wolf population has lost substantial genetic diversity over a 30-year period. Their findings have important implications for the management and conservation of endangered species.
Flotte et al. describe the first test of adeno-associated virus-based gene therapy for Tay-Sachs disease in humans. Delivery to the thalamus and cerebrospinal fluid was found to be broadly safe, providing a firm basis for future clinical trials.
Kong et al. describe 6mASCOPE, a new approach for both quantifying N6-methyldeoxyadenine (6mA) and discriminating its genomic source. Results indicate that eukaryotic genomes contain low levels of 6mA, with bacterial genomes accounting for the majority of 6mA in some samples.
A study in Nature reconstructs haematopoietic phylogenies and tracks clonal evolutionary dynamics in 12 patients with adult-onset myeloproliferative neoplasms, revealing that initial driver mutations of these cancers often occur during childhood, including in utero.
New work studying the plant Arabidopsis thaliana shows that patterns of observed sequence variants are primarily influenced by biases in initial mutation occurrences rather than by the subsequent selective pressures.
A new study in Nature uses genetic information from a single blood sample to monitor pregnancy progression and to identify women at risk of pre-eclampsia before the onset of symptoms.
A study in eLife identifies 71 nuclear loci associated with mitochondrial DNA copy number (mtDNA-CN) and reveals a putative causal role for mtDNA-CN in dementia.
A paper in Cell reports a chromosome-level genome assembly and methylome for the conifer Pinus tabuliformis. At 25.4 Gb, it the largest gymnosperm genome available to date and provides insight into conifer adaptation.
A report in Science describes a method to generate transient chimeric antigen receptor (CAR) T cells in vivo via lipid nanoparticle-mediated T cell-targeted delivery of a CAR-encoding nucleoside-modified mRNA.
A new study in Nature uses mouse models of acute myeloid leukaemia to demonstrate that non-genetic transcriptional signatures are mitotically heritable determinants of clonal fitness that influence cancer progression.
