To date, various epigenetic clocks have been constructed to estimate biological age, most commonly using DNA methylation (DNAm). These include “first-generation” clocks such as DNAmAgeHorvath and “second-gener...

Nature, Published online: 26 February 2025; doi:10.1038/s41586-025-08623-w

A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08300-4

We discuss the potential consequences and ethical concerns of polygenic genome editing of human embryos to alter specific variants associated with polygenic diseases, highlighting the possibility of reducing disease susceptibility while exacerbating health inequalities.

Nature, Published online: 08 January 2025; doi:10.1038/s41586-024-08388-8

Results from a comprehensive evaluation of the function of BRCA2 variants, particularly variants of uncertain significance, provide a useful resource to improve the clinical management of individuals who carry such genetic variants.

Transposable element exonization by unannotated splicing events produces stable protein isoforms with acquired functions that are subject to evolutionary selection.

Nature, Published online: 08 May 2024; doi:10.1038/s41586-024-07370-8

Enhanced light–molecule interactions in high-finesse fibre-based Fabry–Pérot microcavities are used to detect and profile individual unlabelled solution-phase biomolecules, leading to potential applications in the life and chemical sciences.

Nature, Published online: 01 May 2024; doi:10.1038/s41586-024-07359-3

Quantitative multimodal 3D reconstruction of human pancreatic tissue at single-cell resolution reveals a high burden of multifocal, genetically heterogeneous pancreatic intraepithelial neoplasias in the normal adult pancreas.

Cell Death Discovery, Published online: 30 April 2024; doi:10.1038/s41420-024-01883-x

Molecular profiling of a bladder cancer with very high tumour mutational burden

Nature, Published online: 08 April 2024; doi:10.1038/s41586-024-07379-z

Tumor-selective activity of RAS-GTP inhibition in pancreatic cancer

Nature, Published online: 20 March 2024; doi:10.1038/s41586-024-07224-3

A synthetic proteome-scale strategy enables the identification of a diverse range of human proteins that can induce the degradation or stabilization of a target protein in a proximity-dependent way.

Nature, Published online: 13 March 2024; doi:10.1038/s41586-024-07177-7

We uncover key processes of the genomic evolution of small cell lung cancer under therapy, identify the common ancestor as the source of clonal diversity at relapse and show central genomic patterns associated with drug response.

Dietary intake of n-3 polyunsaturated fatty acids (PUFA) may have a protective effect on the development of cardiovascular diseases, diabetes, depression and cancer, while a high intake of n-6 PUFA was often r...

Nature, Published online: 15 January 2024; doi:10.1038/s41586-024-07050-7

Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

Nature, Published online: 08 December 2023; doi:10.1038/d41586-023-03394-8

Researchers who are as skilled in the studio as they are in the lab are forced to choose between disciplines.

Genomics workflows typically map reads onto a reference genome as the foundation for downstream analyses. However, this poses severe limitations for biological discovery when references are incomplete or nonexistent, and even for intensely studied genomes with rich population-level diversity. SPLASH is a highly efficient framework for statistics-driven analysis of sequence variation directly from raw sequencing data, overcoming previous limitations.

Oncogene, Published online: 29 November 2023; doi:10.1038/s41388-023-02903-3

The RORɣ/SREBP2 pathway is a master regulator of cholesterol metabolism and serves as potential therapeutic target in t(4;11) leukemia

Nature Biotechnology, Published online: 18 October 2023; doi:10.1038/s41587-023-02025-x

Author Correction: Enhancing untargeted metabolomics using metadata-based source annotation

Nature Biotechnology, Published online: 04 September 2023; doi:10.1038/s41587-023-01937-y

Metabolites and RNA in a tissue section are profiled simultaneously.

Adrenocortical carcinoma is rare and aggressive endocrine cancer of the adrenal gland. Within adrenocortical carcinoma, a recently described subtype characterized by a CpG island methylator phenotype (CIMP) ha...

DNA methylation (DNAm) is robustly associated with chronological age in children and adults, and gestational age (GA) in newborns. This property has enabled the development of several epigenetic clocks that ca...