Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have limitations — as exemplified by multiracial individuals. We argue that including these individuals will foster inclusion by better capturing complex identities, with equity benefits for the full human population.

Genome-wide association studies of substance-use disorders, including problematic tobacco, alcohol, cannabis and opioid use, have provided evidence for a component of genetic liability that is shared across these traits. To explore this shared liability, Hatoum et al. performed multivariate genome-wide association analyses combining datasets for problematic alcohol use, problematic tobacco use, cannabis

Clonal hematopoiesis of indeterminant potential (CHIP) is defined by the acquisition of driver mutations within hematopoietic stem cells (HSCs), that leads to clonal expansions. Factors that determine the extent of clonal expansion in CHIP remain poorly understood. Weinstock et al. developed a method named passenger-approximated clonal expansion rate (PACER) to ascertain clonal fitness. A genome-wide

The abundance and modification profiles of tRNAs are dynamic and contribute to their biological function. The quantification of tRNA abundance and chemical modifications has been challenging using currently available approaches. Lucas et al. developed a nanopore-based, high-throughput sequencing method, named Nano-tRNAseq, that enables accurate measurement of both the abundance and modification dynamics

Methods such as ChIP–seq and CUT&RUN are used to identify transcription factor-binding sites in the genome, but do not inform on the biochemistry of transcription finding binding — and properties such as affinity and specificity are important for predicting the functional consequences of binding. Neikes et al. address this problem with binding affinities to native chromatin by sequencing (BANC-seq)

As computational analysis becomes ever-more ubiquitous for researchers, the deposition of the underlying code is now an expected part of publication. Shortcomings in code sharing can lead to delays in peer review and publication, as well as reproducibility issues that are easily avoided with author preparation.

Whole-genome doubling (WGD) is a cancer hallmark, but its functional consequences during tumorigenesis are unclear. Lambuta et al. chemically induce WGD in three TP53-mutant cell line models and examine its effects on the 3D genome using single-cell and bulk genomic methods including Hi-C. Cells with WGD show a loss of chromatin segregation (LCS) characterized by epigenomic changes (H3K9me3 and CTCF

Genome sequencing of large collections of individuals with rare diseases is accelerating the discovery of causal genes for monogenic disorders, but extracting robust associations between genotypes and phenotypes remains computationally and statistically challenging. To address this, Greene et al. developed a relational database framework called ‘Rareservoir’ that enables a more efficient representation

Teleosts or ‘ray-finned’ fish comprise approximately half of all vertebrates. Despite their importance, the phylogeny of teleosts has been difficult to determine and the subject of ongoing debate. Parey et al. generated seven high-quality genome assemblies for species that represent key Elopomorpha (tarpons, eels) orders or families. They analyzed these seven Elopomorpha genomes in detail, along with

The germline mutation rate (GMR) works hand in glove with genome evolution. GMRs differ significantly across species but understanding the underpinnings of this variation remains unclear. Bergeron et al. sequenced 151 mother–father–offspring triplets from 68 different vertebrate species. Using a bespoke bioinformatics pipeline to uniformly compute species-specific GMRs, they calculated a 40-fold variation

David Allis (1951–2023) was a leading figure in the field of chromatin biology. He inspired many generations of scientists both through his work and his own personal example as a mentor and colleague. His influential ‘histone code’ theory remains an important guiding principle to study and understand gene regulation.