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In six new studies published in Science, the Telomere-to-Telomere (T2T) Consortium reports the assembly and initial characterization of the final, previously unresolved 8% of the human genome.
A new study in Science uses massively parallel reporter assays to show that human genetic associations are often driven by multiple genetic variants acting together within an associated locus.
A paper in Science describes a system in synthetic yeast chromosomes in which the properties of genetic sequences change depending on the neighbouring transcriptional activity.
A recent paper in Nature describes how CRISPR-based engineering of wheat confers robust resistance to powdery mildew disease without negatively impacting crop growth and yields.
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.
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 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.
Rubin et al. report the development of a programmable organism- and locus-specific genome editing approach that can target microorganisms in their native community context, without the need for isolation.
A study in Science reports the genetic determinants of differences in immune responses to viral infection between individuals of European and African ancestries.
A study in Nature Communications shows that horizontal transfer of bacterial chromosomes by phage-mediated lateral transduction renders them more mobile than many classically defined mobile genetic elements, including plasmids and transposons.
A study in Cell describes how non-coding RNAs can drive the formation of higher-order RNA-chromatin structures in the nucleus, with a role in mediating chromatin conformation and gene expression.
Two recent studies demonstrate that putative nucleases encoded by IS200/IS605 family transposons are programmable RNA-guided DNA endonucleases, which could represent a new source of genome-editing enzymes for biotechnological applications.
A study in Nature Biotechnology describes single-cell genome and epigenome by transposases sequencing (scGET-seq), which generates euchromatin and heterochromatin profiles from the same cell, and Chromatin Velocity, a computational framework capable of predicting future epigenetic cell fate trajectories from scGET-seq data.
A study in Nature describes single-cell ribosome sequencing, which advances single-cell genomics by enabling the measurement of translational dynamics in single cells.
Three recent studies report the generation of miniature CRISPR systems based on compact Cas effector proteins, showing high efficiency of genome editing or transcriptional regulation in mammalian cells.
Four new studies in Nature report multi-tissue analyses of somatic mutations from human donors, with insights into cell lineage commitment during embryonic development, as well as tissue-specific aspects of mutagenesis.
This molecular phenotyping study shows that common variants in mitochondrial DNA associated with diseases of ageing influence cellular protein homeostasis, and that this link is mediated by circulating levels of N-formylmethionine, the initiating amino acid in mitochondrial protein synthesis.
