309 papers
Genomics is the study of an organism's complete set of DNA, offering a deep dive into the biological instructions that shape life. This field explores how genetic information influences traits, health, and evolution, moving beyond single genes to understand the complex interplay within entire genomes. From uncovering the roots of disease to mapping biodiversity, genomics provides the foundational data for many modern medical breakthroughs.
At Gist.Science, we process every new preprint in this category as it appears on bioRxiv, ensuring you stay ahead of the curve. Each paper is accompanied by both a clear, plain-language overview and a detailed technical summary, making cutting-edge research accessible to everyone regardless of their background. Below are the latest papers in genomics, freshly summarized and ready for you to explore.
This study reaffirms that intronic transposable elements frequently contribute to splice-isoform diversity in the *Drosophila* brain by validating previously reported TE-gene splicing events and identifying methodological flaws in a recent contradictory analysis.
By applying a stringent joint variant filtering strategy to single-cell RNA sequencing data, this study reveals that aged hematopoietic stem cells exhibit structured clonal genealogies and transcriptional divergence linked to aging and DNA damage, distinguishing these mutational landscapes from aging-associated clonal hematopoiesis.
This study presents the first spatially-resolved single-cell atlas of the adult human ventromedial and arcuate hypothalamus, revealing distinct sex-differentially expressed genes in specific neuronal populations that link sex-biased physiology to the mechanistic basis of neurodevelopmental and neuropsychiatric disorders.
This study identifies and characterizes a stably integrated *Alphatorquevirus hominis* 29 genome within the rDNA locus of the SKNO-1 acute myeloid leukemia cell line, demonstrating that the virus is maintained, transcribed, and regulated by specific host transcription factors, thereby providing a unique model to investigate anellovirus persistence and hematopoietic tropism.
By integrating single-cell transcriptomes of developing human and mouse cerebella, this study identifies a human-enriched unipolar brush cell subpopulation (UBC 1) driven by SOX4 and SOX11 that serves as the likely cellular origin for a significant subset of Group 3 and 4 medulloblastoma, highlighting the necessity of human-specific models for understanding these tumors.
The paper introduces NEMO, a motif-driven modeling approach that significantly improves the accuracy of detecting 6-methyladenine (6mA) from raw Nanopore sequencing data, enabling high-resolution epigenetic analysis in both new and existing datasets.
This study develops a deep learning framework integrating multimodal spatial omics and whole-slide imaging to decode the maturation of tertiary lymphoid structures in non-small cell lung cancer, revealing two distinct spatial ecosystems with opposing prognostic implications.
The paper introduces UnionLoops, a computational workflow that enhances the reproducibility, specificity, and sensitivity of chromatin loop detection across multiple related Hi-C datasets by integrating information to distinguish shared interactions from sample-specific noise, thereby enabling more reliable comparative biological analyses.
This study utilizes custom-designed microarrays to demonstrate that specific *pir* gene subfamilies are differentially upregulated in severe *Plasmodium vivax* infections, suggesting their potential role in cyto-adherence and pathogenesis of cerebral malaria and hepatic dysfunction.