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.
Through the community-driven manual curation of over 7,500 gene models in *Pristionchus pacificus*, this study highlights critical limitations in current automated annotation pipelines—such as assembly errors, artificial transcript fusions, and homology-based error propagation—and offers valuable insights to improve future genome annotation efforts across diverse species.
This study utilizes a multidimensional analysis of a multiparental interspecific tomato (ToMAGIC) population to identify key genomic regions and transgressive lines associated with drought resilience, offering valuable insights for breeding water-efficient tomato cultivars.
By applying the Minimum Description Length principle and maximum parsimony, this study reveals that regulatory demands scale nonlinearly with tissue specificity—peaking in intermediate-specificity genes—and uncovers distinct regulatory strategies where selective genes function as on/off switches while ubiquitous genes act as fine-tuning knobs, all of which vary systematically with gene age.
This study reveals that the evolutionary history and global dispersal of the rice bacterial blight pathogen *Xanthomonas oryzae* pv. *oryzae* (Xoo) in Asia closely mirror the domestication and spread of rice, with distinct ancestral lineages emerging in China and India and a third lineage arising through recombination and trade.
By integrating whole-genome sequencing with paleoclimate history, this study reveals how Andean climatic oscillations shaped distinct demographic trajectories and genetic risks in Ecuadorian pumas, providing a framework for targeted conservation strategies that balance corridor restoration with genetic rescue.
The paper introduces GFMBench-API, a modular Python interface that standardizes the evaluation of Genomic Foundation Models by decoupling model-specific processing from task-specific data and metrics to enable reproducible and consistent benchmarking.
The paper introduces MitoDrift, a probabilistic framework that leverages somatic mitochondrial DNA mutations to achieve high-precision, engineering-free single-cell lineage tracing in humans, thereby revealing critical insights into clonal dynamics during aging and disease that were previously undetectable.
This study demonstrates that nanopore metagenomic sequencing can accurately link antimicrobial resistance genes to their specific bacterial hosts in clinical samples by exploiting DNA methylation patterns, thereby enabling culture-free, rapid pathogen and resistance surveillance.
This study presents high-quality, chromosome-level reference genomes for *P. falciparum*, *P. ovale wallikeri*, and *P. malariae* derived directly from natural infections using advanced sequencing technologies, thereby resolving previously inaccessible genomic regions and providing a critical foundation for global malaria elimination efforts.
This study characterizes the global diversity of the sourdough yeast *Mauriziozyma humilis*, revealing a complex evolutionary history driven by hybridization and ploidy variation that shapes its phenotypic landscape more significantly than ploidy level alone.