Nature Genetics

Age distinguishes selection from causation in cancer genomes

David Cheek — 2026-05-05

Nature Genetics, Published online: 05 May 2026; doi:10.1038/s41588-026-02593-z

Mutations may be enriched in tumor samples because they promote carcinogenesis or because they promote clonal expansions in healthy tissue. This study mathematically disentangles these two possibilities by analyzing tumor and normal tissue sequencing datasets.

The Single Cell Notebooks for inclusive and accessible training in single-cell and spatial omics

Adolfo Rojas-Hidalgo — 2026-05-05

Nature Genetics, Published online: 05 May 2026; doi:10.1038/s41588-026-02584-0

The Single Cell Notebooks provide multilingual, open-access training materials for single-cell and spatial transcriptomics analysis through reusable notebooks. They have evolved into a community-driven platform for education and capacity building, lowering language and computational barriers to support equitable participation in omics research.

Population-level super-pangenome reveals genome evolution and empowers precision breeding in watermelon

Honghe Sun — 2026-05-05

Nature Genetics, Published online: 05 May 2026; doi:10.1038/s41588-026-02598-8

A population-scale super-pangenome constructed from 138 reference-grade genome assemblies, representing seven extant Citrullus species, highlights genomic variation associated with fruit-quality traits and accelerates watermelon breeding.

Transposable elements shape stemness in normal and leukemic hematopoiesis

Giacomo Grillo — 2026-05-04

Nature Genetics, Published online: 04 May 2026; doi:10.1038/s41588-026-02585-z

This study identifies distinct transposable element subfamilies as genetic determinants of stemness properties in normal and leukemic stem populations with clinical implications for patients with acute myeloid leukemia.

High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia

Masanori Yoshida — 2026-05-01

Nature Genetics, Published online: 01 May 2026; doi:10.1038/s41588-026-02587-x

This study explores the clonal architecture of aplastic anemia across age using single-cell approaches. Somatic inactivation of specific human leukocyte antigen risk alleles is a frequent event and often occurs in multiple independent events.

Machine learning in prediction and classification of type 1 diabetes

Yangxi Li — 2026-04-30

Nature Genetics, Published online: 30 April 2026; doi:10.1038/s41588-026-02571-5

Genetic prediction of type 1 diabetes is one of the most successful for complex traits. A machine learning approach now improves this further and discovers multiple non-linear locus–locus interactions and molecular subclusters with differing clinical features.

Genetic association and machine learning improve the prediction of type 1 diabetes risk

Carolyn McGrail — 2026-04-30

Nature Genetics, Published online: 30 April 2026; doi:10.1038/s41588-026-02578-y

Genome-wide association and fine-mapping analyses of type 1 diabetes (T1D) identify multiple genetic risk signals. Furthermore, a machine learning model, T1GRS, improves the prediction of T1D in individuals with complex risk profiles and identifies genetic subgroups.

Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations

Dora Koller — 2026-04-29

Nature Genetics, Published online: 29 April 2026; doi:10.1038/s41588-026-02582-2

Multi-ancestry genome-wide association analyses coupled with multi-omics integration identify new risk loci for endometriosis and adenomyosis, shed light on underlying molecular mechanisms and suggest potential therapeutic interventions.