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Latin America and the Caribbean remain largely underrepresented in psychiatric genetics research. This Review highlights the need for more research in these populations to advance genetic insights and ensure equitable precision medicine access.
The biological significance of somatic mutations in rare genetic liver diseases has remained elusive. A study using genomic sequencing paired with experimental cell-based assays has shed light on the selective advantage and accumulation of somatic variants in SERPINA1 found in liver explants from patients with alpha-1 anti-trypsin deficiency.
Borzoi is a deep learning model that predicts RNA sequencing coverage across each exon of every human gene, across different cells and tissues, based on DNA sequence alone.
Modern genome-wide association study (GWAS) datasets are biobank scale and are distributed across isolated repositories, owing to privacy concerns and regulations. Secure federated GWAS leverages cryptographic tools to enable joint analysis of these siloed datasets, thereby enhancing a range of common analyses while providing formal guarantees of data privacy.
Multiomics and ecological spatial analysis (MESA) calculates ecodiversity-inspired metrics in spatially resolved omics integrated with single-cell data, enabling the quantitative comparison of tissue states across a range of conditions.
This Perspective explores causal machine learning in single-cell genomics, addressing challenges such as generalization, interpretability and cell dynamics, while highlighting advances and the potential to uncover new insights into cellular mechanisms.
Whole-genome sequencing and mutational signature analysis of 265 head and neck cancer samples collected from eight different countries provide insight into the vital contribution of tobacco smoke in disease etiology.
Chromosome-level genome assemblies of allotetraploid Nicotiana tabacum and its ancestors, along with their transcriptomes, epigenomes and genotype and phenotype data for 5,196 N. tabacum germplasms, provide insights into genome evolution and complex trait regulation.
Analysis of whole-genome sequencing data from Iceland and the UK Biobank identifies an excess burden of rare loss-of-function variants in HECTD2 and AKAP11 in individuals diagnosed with bipolar disorder.
Transcriptome-wide m6A RNA methylation profile in 162 primary prostate tumors identifies m6A association with prognostic clinical features and disease aggression.
gLike infers population demographic histories with a variety of complex admixture events by analysis of graphs of states, which conceptualize the relationships of all lineages found in trees encoded in the ancestral recombination graph.
The cobraa model extends the pairwise sequentially Markovian coalescent to identify structured population history by examination of the model transition matrix. Applied to human polymorphism data, cobraa identifies an ancient admixture event ancestral to all modern humans.
NicheCompass is a graph variational autoencoder approach for identifying cellular niches defined by cell–cell communication and other interactions, applicable to a broad variety of spatial multi-omic data.
A telomere-to-telomere genome assembly of the elite Gossypium hirsutum variety ZM113 provides insights into upland cotton short-season adaptation and identifies a repositioned, satellite repeat-rich centromere.
This study provides a de novo resequencing of 802 Camellia accessions and a genome-wide variation map. Genome-wide association study (GWAS) and metabolite GWAS identify genes responsible for crucial agronomic and flavor traits.
