Research Highlights in 2023

A study published in Science develops an efficient mining algorithm to identify and then experimentally characterize many rare CRISPR systems.

Two papers in Nature Biotechnology report spatial transcriptomic methods for the simultaneous capture of host and microbial genes to study host–microorganism interactions.

Martin et al. report that the EP400/TIP60 complex can compensate for function of the SWI/SNF complex to remodel chromatin at some promoters.

Zhang et al. describe mSwAP-In, a platform for large-scale, efficient, biallelic and ‘scarless’ genome editing in mice.

Johnson et al. identify a WNT regulator that underlies the development and evolution of distinct colour patterning in the African striped mouse.

Three papers in Nature report on the largest open-access plasma proteomics dataset to date, a valuable resource for understanding human disease and the identification of drug targets.

Legnini et al. report in Nature Methods their new optogenetic method for controlling gene expression in organoids that can be coupled with single-cell and spatial transcriptomics.

Reporting in Science, a team from Google DeepMind describe AlphaMissense, a tool to predict the pathogenicity of missense variants.

A paper in Nature finds that nuclear genetic variation can influence heteroplasmy and the human mitochondrial genome.

Guhlin et al. sequenced the genomes of almost the entire extant population of the critically-endangered kākāpō, revealing genetic variants for fitness-related traits that can inform conservation strategies.

Roohani et al. have developed a deep learning tool called GEARS that predicts the effects of multigene perturbations.

A paper in Science reports a time-resolved multiomic atlas of the human yolk sac, expanding knowledge of this poorly resolved structure in humans.

Breda et al. developed a method for gene editing bone marrow cells in vivo, circumventing the need for toxic conditioning regimens such as chemotherapy or radiation.

Two studies published in Nature investigate the genetic mechanisms of sex bias in cancers and implicate Y chromosome genes in contributing to the aggressiveness of bladder cancer and colorectal cancer in men.

Jacobs et al. report in Science that different co-repressors repress the transcriptional activity of different subsets of enhancers associated with genes of different function.

A study in Nature reports a strong association between asymptomatic SARS-CoV-2 infections and the HLA-B*15:01 allele and reveals mechanistic insights into its protective effect.

Zeng et al. introduce RIBOmap, a three-dimensional in situ imaging technique that enables the mapping of mRNAs undergoing translation.

Liang et al. report in Nature that complementary Alu sequences allow an enhancer to find its cognate promoter over long distances, potentially through the formation of RNA duplexes.

A study in Science identifies Mavericks, a class of ancient, virus-like transposable elements, as a vector for horizontal gene transfer in nematodes.

In five new studies, the Human Pangenome Reference Consortium reports the generation and initial characterization of a draft human pangenome.