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Multi-ancestry genome-wide association analyses identify new risk loci for Parkinson’s disease, and fine-mapping and co-localization analyses implicate candidate genes whose expression is associated with disease susceptibility.
ancIBD identifies identity-by-descent regions in ancient DNA using a hidden Markov model optimized for these low-coverage data. Analysis of 4,248 individuals demonstrates that ancIBD can identify up to sixth-degree relatives and provides genealogical insights into ancient populations.
The long noncoding RNA AMANZI downregulates IL-1β expression and trained immunity by inducing IL-37 transcription via long-range chromatin contacts. The common variant rs16944 present in AMANZI modulates proinflammation or immunosuppression risk.
Chromosome-scale genome assemblies of triploid Cavendish and Gros Michel reveal the banana cultivars’ origins, disease resistance and fruit ripening mechanism.
DeepFlow uses deep learning to extract cardiac flow phenotypes from phase-contrast magnetic resonance images. Genome-wide analyses of cardiac flow traits in UK Biobank highlight the contribution of connective tissue genes to aortic valve function.
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.
Whole-genome analysis of paired follicular lymphoma and double-hit lymphoma shows that lymphoma progression is accompanied by enhanced somatic mutations targeting super-enhancer-embedded promoters.
Analyses of in vivo models, cell lines and patient-derived samples show that apolipoprotein B mRNA-editing catalytic subunit 3B (APOBEC3B) not only restrains lung tumor initiation but also that its upregulation is associated with resistance to targeted therapies. This study highlights the complex and context-dependent role of APOBEC3B in lung cancer.
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.
Analysis of single-nucleus RNA sequencing and single-nucleus assay for transposase-accessible chromatin with sequencing data derived from synovium of patients with rheumatoid arthritis identifies regions with dynamic accessibility that correlate with cell states. Dynamic peaks are more strongly enriched for autoimmune disease heritability.
A downsampling approach to assess causal variant fine-mapping, replication failure rate, finds that commonly used methods may be miscalibrated. Simulations suggest this is probably due to a nonsparse genetic architecture model misspecification. Incorporating infinitesimal effects in the SuSiE and FINEMAP frameworks improves performance.
Cross-ancestry genome-wide association meta-analyses identify new risk loci for peptic ulcer diseases and provide evidence that gastrointestinal cell differentiation and hormone regulation contribute to their etiology.
Population analysis of 516 wild and domesticated broomcorn millet genomes and a graph-based pangenome based on de novo assemblies of 32 representative accessions identify genomic variations associated with domestication traits.
Roulette enables the estimation of germline mutation rates at basepair resolution from humans. Genes encoding small nuclear RNA showed significant deviations from the mutation rate predicted by Roulette, highlighting RNA polymerase III (Pol III)-dependent transcription as a potent source of mutations in the human genome.
A multivariate framework for isoform-resolution transcriptome-wide association studies enables modeling of a greater number of genes, with the benefit of identifying isoform-specific associations with psychiatric traits not observed at the gene level.
Genome-wide analyses yield insights into the polygenic effects contributing to clinical heterogeneity in attention deficit hyperactivity disorder, advancing understanding of its genetic etiology and serving as a model for future studies in other complex disorders.