418 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 paper presents iCLIP3, an optimized, non-radioactive protocol that streamlines the generation of high-resolution, transcriptome-wide maps of protein-RNA interactions from low-input material through key improvements in visualization, RNA isolation, and library multiplexing.
This paper introduces a contrastive learning framework that aligns single-cell RNA-seq expression with copy number variations to identify dosage-insensitive genes in lung adenocarcinoma, revealing specific regulatory escape and compensation mechanisms that persist despite genomic alterations.
This study establishes that the evolution of complex multicellularity is characterized by a scaling law where genome growth is driven primarily by noncoding DNA expansion rather than a proportional increase in coding genes, which saturates beyond approximately 40 Mb of genic content.
This study reconstructs a comprehensive, transcript-resolved catalogue of human enhancer RNAs (eRNAs) across diverse tissues and disease contexts, revealing reproducible, cell-type-specific splicing patterns and providing a new annotation framework to enable functional investigation of eRNA biology.
This study benchmarks the Ultima UG100 and Illumina NovaSeqX platforms using the HG002 reference set, revealing that while the UG100's error burden is significantly reduced within its high-confidence regions, it still exhibits context-specific genotyping errors—particularly in homopolymers, GC-rich areas, and read tails—that exclude a notable fraction of clinically relevant variants.
By analyzing 36 chromosome-level genomes of sedges and rushes, this study reveals that their unique oligocentric organization drives rapid chromosomal rearrangement and karyotype evolution, while also identifying potential evolutionary reversions to monocentricity and transitions to holocentricity within the clade.
This study demonstrates that *Alternaria atra* isolates with distinct ecological origins (endophytic and pathogenic) possess highly similar genomic repertoires and phenotypic behaviors, suggesting that lifestyle plasticity rather than fixed genomic specialization underpins their diverse ecological roles.
The authors developed the ChIP-FRiP pipeline to systematically analyze 140 cohesin ChIP-seq datasets, revealing that antibody background and technical variability significantly distort binding patterns, and subsequently proposed a spike-in-based correction strategy integrated with biophysical simulations to enable accurate comparative analysis of cohesin positioning.
The paper introduces XPCLRS, a highly efficient Rust-based implementation of the XP-CLR selection signature detection method that offers native multithreading and hundreds-of-times faster performance while maintaining accuracy comparable to the original approach, thereby lowering computational barriers for genomic studies.
This study reveals that superabundant microRNAs, specifically miR-1275 and miR-6724, are transcribed from human rDNA spacer promoters flanked by CTCF, processed and exported rapidly independent of canonical pathways, and function as circulating cancer biomarkers with potential general regulatory roles.