Single-cell transcriptomes and single-cell chromatin accessibility profiles generated using EasySci provide a global view of aging and Alzheimer’s pathogenesis-associated cell population dynamics in human and mouse brains.

A barcode-based approach applied to UK Biobank and an Icelandic cohort identifies drivers of clonal hematopoiesis (CH) and finds associations between CH and multiple diseases. Genome-wide association analyses identify 25 loci associated with CH susceptibility.

CRISPR activation/interference screens identify transcriptional regulators of human CD8⁺ T cells, including BATF3. BATF3 overexpression counteracts T cell exhaustion and enhances cancer immunotherapy in in vivo models.

In pancreatic duct adenocarcinoma, super-enhancer RNAs (seRNAs) have higher N⁶-methyladenosine (m⁶A) levels than in adjacent normal tissue due to upregulation of the METTL3 cofactor CFL1. Aberrant m⁶A seRNAs promote oncogene expression via the YTHDC2–MLL1 complex.

CellCharter is a flexible, platform-agnostic method for identifying cell niches in spatially resolved data. Analysis of lung cancers demonstrates the importance of considering spatial information, exemplified by a neutrophil-associated niche that correlates with an aggressive cancer cell state and patient prognosis.

A strategy for inferring phase for rare variant pairs is applied to exome sequencing data for 125,748 individuals from the Genome Aggregation Database (gnomAD). This resource will aid interpretation of rare co-occurring variants in the context of recessive disease.

Genome-wide analyses of blood cell phenotypes derived from perturbations coupled with flow cytometry-based functional readouts identify loci associated with latent cellular traits, yielding insights into biological mechanisms underlying common diseases.

A chemical-genetic approach coupled with temporally resolved chromatin profiling shows that RNAPII promoter-proximal pausing stabilizes BAF complex occupancy and promotes nucleosome eviction.