368 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.
The paper introduces PAQu, a novel Bayesian method that integrates transcriptomic and peptidomic data to accurately estimate protein isoform abundances and detect differential expression, successfully validating increased C4A isoform levels in schizophrenia.
This study proposes that the ubiquitous mutational signature SBS5 arises from a "collateral mutagenesis" funnel where diverse sources of endogenous and exogenous DNA damage, processed through both translesion synthesis and DNA repair, converge to produce a consistent mutation spectrum across all human cell types.
This study demonstrates that a single-plant genome-wide association study (sp-GWAS) framework can effectively identify polygenic loci and candidate genes controlling multiple vegetative architecture traits in cultivated Northern Wild Rice, providing a foundation for genomic selection to accelerate the improvement of this emerging aquatic crop.
This study demonstrates that the CelFiE-ISH framework, when applied to ultra-low-pass whole-genome methylation sequencing from Oxford Nanopore data, can detect circulating tumor DNA in epithelial cancers at fractions as low as 1.7–3.1% by utilizing a refined set of epithelial-specific methylation markers.
By integrating long-read direct RNA sequencing, ribosome profiling, and single-cell transcriptomics, this study provides a robust, stage-specific characterization of *Plasmodium falciparum* long non-coding RNAs, revealing their abundance in mature gametocytes and suggesting critical roles in regulating gene expression during sexual development and transmission.
This study identifies distinct CG-rich sequence motifs flanking the first intron that serve as a predictive feature for recursive splicing, suggesting that early RNA synthesis events establish the usage of these sites throughout the transcript.
This study presents a high-quality reference genome and a comprehensive multi-stage, tissue-specific transcriptome atlas of the Rocky Mountain wood tick (*Dermacentor andersoni*), providing critical resources to elucidate its blood-feeding biology and advance strategies for controlling the diseases it transmits.
This study introduces "Plate-C," a high-throughput platform that enabled the first large-scale chemical screen of whole-genome 3D architecture across thousands of samples, revealing diverse, pathway-specific modulators of DNA structure and validating their rapid, brain-wide impact in vivo.
This study evaluates various DNA extraction methods for the freshwater mussel *Anodonta anatina*, revealing that while Nanobind and CTAB protocols are optimal for fresh tissue, the Omega Mollusc Kit unexpectedly outperforms them on flash-frozen samples, offering a practical and cost-effective solution for generating DNA suitable for PacBio HiFi sequencing.
This study presents the first complete, gapless telomere-to-telomere assembly of the Y chromosome (CQ-chrY) for the father of the Chinese Quartet, integrating multi-platform sequencing data to resolve complex repetitive regions and provide a high-quality paternal haplotype resource for advancing East Asian genomic standards.