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 paper introduces Terminal Mapping, a novel high-throughput, ligase-independent method that outperforms traditional techniques in detecting viral integration sites by combining linear amplification and poly-A tailing to profile host-insert junctions with improved robustness and reduced bias.
This study developed and validated a flexible GT-seq genomic panel that not only resolves cryptic diversity within the *Coregonus artedi* complex but also successfully cross-amplifies to identify related whitefish species, enabling large-scale ecological monitoring of early-life stages in the Laurentian Great Lakes.
This study identifies co-expressed microRNAs and their associated mRNA targets in midlife women with prediabetes, revealing that metabolic, inflammatory, endocrine, and stress-related pathways may underlie the increased risk for multimorbid depression and type 2 diabetes in this population.
This paper introduces LongBench, a comprehensive multi-platform reference dataset profiling eight human lung cancer cell lines using bulk, single-cell, and single-nucleus long-read RNA sequencing technologies, which systematically evaluates their performance to reveal high concordance in gene-level analyses but reduced consistency in transcript-level and isoform resolution due to platform-specific biases.
This study leverages chromosome-scale assemblies from the Vertebrate Genomes Project to reveal that the 45S ribosomal DNA locus across vertebrates is a multi-layered evolutionary system characterized by lineage-specific variations in genomic architecture and copy number, while maintaining a gradient of sequence conservation that transitions from highly stable rRNA-coding regions to rapidly diverging spacer sequences.
This study demonstrates that using long-read metagenomic data with COG-based functional features in single- and multi-matrix BLUP models enables accurate prediction of enteric methane emissions in sheep, outperforming taxonomic features and suggesting that functional annotation alone is sufficient for effective methane mitigation strategies.
This study addresses the genomic resource gap for the underutilized crop grasspea by generating whole-genome sequencing data for 344 global lines and developing a high-density SNP marker set of over 1.5 million variants to facilitate future breeding and trait discovery.
This study introduces a scalable in vivo compressed AAV-Perturb-seq platform that successfully links genotypes to phenotypes in the heart, revealing that mitochondrial transcriptome alterations are a common response to diverse genetic perturbations.
This study utilizes Nanopore sequencing of livestock samples from 2022 to 2025 to demonstrate that recurrent Rift Valley fever outbreaks in Rwanda are driven by the sustained local circulation of lineage C rather than repeated viral introductions.
This study introduces CLASH, a computational framework that harmonizes chromatin loop calls across individuals using multimodal genomic data to quantify how genetic variation, methylation, and CTCF occupancy collectively shape differential loop formation and strength in human populations.