Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01958-6, published online 11 November 2024.

The standardized naming of gene variants in both databases and publications is crucial to ensure their discoverability and clinical application. Efforts are underway in conjunction with the Human Genome Organization (HUGO) to develop a field standard for variant reporting through the use of validation software prior to publication.

Pathogenic expansions of tandem repeat sequences underlie a diverse set of neurological conditions. To assess frequencies of repeat expansion mutations in the general population, Ibañez et al. analyzed whole-genome sequencing data from two large population-based studies comprising 82,176 individuals of diverse ancestries, focusing on 16 repeat expansion disorder loci for which they could accuracy classify

Dietary restriction and genetics can impact health and lifespan in various species. Di Francesco et al. investigated the effects of caloric restriction and intermittent fasting on the lifespan of 960 genetically diverse female mice, in which hundreds of physiological traits were profiled. These diverse outbred mice were randomized to one of five diet groups: ad libitum; 1 day or 2 consecutive days

Genome sequencing of large cohorts has identified many protein-coding missense variants, the functional consequences of which remain difficult to predict computationally. Lacoste et al. use a new high-throughput screening approach to characterize the effects of known pathogenic variants on protein localization. They analyzed a total of 3,448 variants, many with known or likely pathogenicity in the

Previous studies have characterized chromatin conformation and DNA methylation dynamics in early postnatal and adult brain tissues. To gain single-cell resolution, Heffel et al. used single-nucleus methyl-3C sequencing to profile chromatin conformation and DNA methylation during human prenatal development of the prefrontal cortex and hippocampus and compared these with postnatal and adult tissues.

Optical pooled CRISPR screens have been widely adopted for functional genomic studies. Gu et al. present CRISPRmap, an optical pooled screening approach that integrates sequencing-free in situ barcode readout with cyclic immunofluorescence and RNA detection. The cyclical hybridization readout method improves the specificity and sensitivity of barcode detection through combinatorial hybridization of

Mammalian pachytene PIWI-interacting RNAs (piRNAs) are expressed during the pachytene stage in spermatocytes with proposed roles in the regulation of meiosis. However, their specific functions and targets remain elusive. In this study, Swathi Arur and colleagues interrogate the function of 21URNAs, the Caenorhabditis elegans piRNAs, and the PIWI homolog prg-1 in the male germline. They show that loss

The combination of different checkpoint inhibitors has been shown to benefit some patients with non-small cell lung cancer (NSCLC), but identifying those who are most likely to benefit and sparing patients who will not remains a crucial challenge. Skoulidis et al. show that tumors with mutations in KEAP1 and/or STK11 are more likely to respond to dual PD-L1 and CTLA4 blockade (with the inhibitors durvalumab

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01921-5. Published online 15 October 2024.

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01938-w, published online 2 October 2024.

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01947-9, published online 8 October 2024.

Reduced expression of the invariant chain impairs antigen presentation by the major histocompatibility complex class II (MHC-II), triggering the production of autoantibodies against aberrant self-antigens, termed neoself-antigens. To further examine the impact of these processes in vivo, Mori et al. generated mice harboring an inducible knockout allele for the invariant chain. They found that ablation

Access of transcription factors (TFs) to their target sequences is governed by nucleosome occupancy, but the effect of local chromatin state on the ability of individual TFs to bind to their targets remains unclear. In this work, Dirk Schübeler and colleagues apply a reductionist approach to determine the in vivo occupancy of over 100 individual TF-binding motifs within different chromatin contexts

Cancer immunotherapy induces a tumor antigen-specific T lymphocyte response that kills tumor cells. Dendritic cells, specifically conventional type 1 dendritic cells (cDC1s), have a crucial role in antigen presentation, making them an important cell type for immunotherapy. Tumor cell reprogramming into cDC1-like cells by the transcription factors PU.1, IRF8 and BATF2 (PIB) results in robust T cell

Pangenome graphs are commonly used as references for read mapping. To improve the mapping accuracy, Sirén et al. proposed a k-mer-based approach for sampling haplotypes that were subsequently used to build a personalized subgraph. The original pangenome graph was partitioned into nonoverlapping blocks, and the local haplotypes were labeled with graph-unique k-mers. Based on the k-mer counts in the