Since the Human Genome Project, the consensus position in genomics has been that data should be shared widely to achieve the greatest societal benefit. This position relies on imprecise definitions of the concept of ‘broad data sharing’. Accordingly, the implementation of data sharing varies among landmark genomic studies. In this Perspective, we identify definitions of broad that have been used interchangeably

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01968-4, published online 4 November 2024.

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01971-9, published online 18 November 2024.

Brain metastases are common and highly deadly occurrences that derive from primary cancer, especially in patients with lung adenocarcinoma (LUAD). However, it is challenging to predict if and when these metastases will appear. To better understand this issue, Zuccato et al. studied 402 LUAD tumor and plasma samples from patients with or without brain metastases. Specifically, they analyzed DNA methylation

Machine learning models have recently generated excitement for their potential in a broad range of domain applications, including genomics. However, owing to their complexity, they are prohibitively expensive to train for the large genomic contexts of DNA language models, resulting in limited receptive fields and/or n-mer sequence tokenization. Nguyen et al. present a step forward for the field with

It is widely established that single-nucleotide variants — including those known to drive tumors — are pervasive across normal tissues, but whether more complex genetic lesions are present is less clear. Lin et al. addressed this issue by profiling breast tissue sampled from 49 healthy women by single-cell DNA sequencing and ATAC-seq. Overall, their analysis showed that copy number changes and aneuploidy

Caenorhabditis elegans is a powerful model to study neuronal function, but despite the limited number of well-defined neurons in this worm, the roles that specific proteins and receptors have in individual neurons is not known. St. Ange et al. used single-nucleus RNA sequencing (snRNA-seq) to define the transcriptome of each neuron type in both wild-type and daf-2 worms, mutants in insulin signaling

Emil was born in Poland in the town of Buczacz (now located in Ukraine) on 27 August 1941. He miraculously escaped the Nazi death camps as an infant but lost many family members. He was raised by his adoptive Skamene family in the Czech Republic. He obtained his MD and PhD degrees from Charles University in Prague; he then undertook post-doctoral work at Harvard Medical School in Boston and completed

Software development for comprehensive variant detection would enhance our understanding of the human genome. Behera et al. introduce a method, dynamic read analysis for genomics (DRAGEN), to identify all types of genomic variant at scale and accuracy on Illumina’s whole-genome sequencing platform. The DRAGEN variant calling pipeline improves the accuracy of variant detection and enables more comprehensive

Aspects of single-cell RNA sequencing (scRNA-seq) data, such as its sparsity and high cell–cell variability, have made it hard to apply statistical approaches developed for bulk RNA-seq analyses, such as differential gene expression Kim et al. present Memento, a tool that uses methods-of-moments estimators of the hypergeometric sampling process to estimate single-cell gene abundances, variation and

Chondrocytes are cartilage cells that contribute to long-bone growth and are thus key to understanding height biology. However, our knowledge about epigenetic regulation and gene expression of human chondrocytes is sparse. To fill this gap, Richard et al. profiled chondrocytes sampled from different parts of the developing human skeleton (proximal and distal regions of limb bones) by RNA-seq and ATAC-seq

Spatiotemporal gene regulation is essential for accurate development and involves promoters and distal regulatory elements (DREs), such as enhancers or silencers. However, physical contacts with promoters do not always result in gene expression and how DREs contribute to gene activation is not fully understood. Mahara et al. combine chromatin conformation capture techniques with transcription and chromatin

Correction to: Nature Genetics https://doi.org/10.1038/s41588-024-01975-5, published online 21 November 2024.

Using reported parental disease history to decipher the genetics of Alzheimer’s disease may be promising, but this approach is also susceptible to complex selection and information bias that can mislead researchers if not accounted for.