Targeted sequencing of neurodegenerative disease genes and transcriptome-wide sequencing in postmortem brain and spinal cord samples from individuals with amyotrophic lateral sclerosis or frontotemporal dementia identify somatic mutations as likely drivers of disease pathology.

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.

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.

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.

Multi-ancestry exome-wide analyses in the Million Veteran Program, UK Biobank and All of Us identify rare coding variants across 209 genes associated with blood lipid traits, highlighting new candidate drug targets across diverse populations.

Davidovich et al. investigate allele-specific DNA methylation inheritance patterns in mouse liver and muscle. Most patterns are Mendelian, but ~7% are non-Mendelian, including new imprinted genes and a paramutation at the Capn11 locus.

This study identifies structural variants (SVs) from long-read assemblies, develops a new reference panel and web application to impute SVs from single-nucleotide polymorphism-level data, and identifies associations between SVs and complex traits.

Cellist is a computationally efficient cell-segmentation method combining imaging and expression data from spatial transcriptomics across different technologies.

A de novo genome assembly of drought-resistant wheat (Triticum aestivum L.) genotype JIN50 and genomic analyses across other wheat germplasms identify structural variations contributing to drought responses and adaptation.

High-resolution analyses of blood-derived whole-genome sequence data from UK Biobank detect new mosaic chromosomal alterations and identify rare protein-coding variants associated with clonal expansions of copy-neutral loss-of-heterozygosity mutations.

Large-scale biological data repositories, particularly when deployed as single, non-mirrored instances or governed within narrow contexts, face structural vulnerabilities, from cyberattacks to funding disruptions. We propose a hybrid framework that integrates federated and decentralized models to ensure the resilience, sustainability and FAIR/CARE stewardship of scientific data as a global public good.

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.