856 papers
Bioinformatics sits at the exciting intersection where biology meets data science, using powerful computer tools to decode the vast complexity of living systems. From mapping the human genome to tracking how viruses evolve, this field transforms raw biological information into actionable insights that drive modern medicine and research forward without requiring a supercomputer to understand the basics.
On Gist.Science, we ensure you never miss a breakthrough by processing every new preprint in this category directly from bioRxiv. Our team provides both plain-language explanations and detailed technical summaries for each paper, making cutting-edge discoveries accessible to everyone regardless of their background.
Below are the latest bioinformatics papers added from bioRxiv, ready for you to explore with clarity and depth.
This paper introduces MAG-E, a simulation-based framework for end-to-end evaluation of metagenome-assembled genome (MAG) pipelines, which reveals that while metaSPAdes and COMEBin generally outperform alternatives in the human gut microbiome, current tools struggle with prophages and shared contigs, and quality control metrics like CheckM2 often misestimate genome quality.
PoolParty is a Python package that streamlines the design of complex DNA sequence libraries through a flexible, graph-based API featuring over 50 built-in operations and comprehensive design documentation.
The paper introduces the Inner Ear Knowledge Base (IEKB), an open-access resource that unifies curated gene-phenotype-disease associations, cochlear interactions, Bayesian candidate prioritization, explainable support relations, and a multi-entity scientific network to advance inner-ear genetics research through automated curation and interactive exploration tools.
The authors present GMIP-PLSR, a Nextflow-based pipeline that integrates GWAS with multi-omics data using Partial Least Squares Regression to overcome multicollinearity issues in existing tools like PoPS, thereby significantly improving gene prioritization and biological insights for complex traits such as NAFLD.
This paper presents a grid-search framework for calibrating actigraphy sleep detection algorithms that offers a reproducible alternative to manual tuning, demonstrating modest improvements in sleep timing estimation and enhanced handling of within-sleep wakefulness through ensemble methods.
gbdraw is a secure, serverless web application and command-line tool developed to generate customizable circular and linear genome diagrams for microbes and organelles directly within the user's browser, eliminating the need for data uploads while supporting both programmatic batch processing and graphical user interface accessibility.
This study utilizes multi-organ MRI data from 70,000 individuals to demonstrate that local and global imaging patterns can effectively quantify biological ageing, revealing significant associations with chronic diseases and lifestyle factors while establishing a framework for personalized health risk stratification.
This paper presents a minimal mathematical model driven by inflammation and demyelination that successfully reproduces the relapsing-remitting dynamics of multiple sclerosis through Hopf bifurcation and aligns with experimental data on contrast-enhancing lesions.
This paper introduces TPCAV, a novel concept attribution framework that adapts and enhances the TCAV method with PCA-based decorrelation to provide robust, input-agnostic interpretations of diverse genomics deep learning models, enabling the analysis of both traditional DNA motifs and complex biological features like chromatin states and repetitive elements.
The paper introduces GeoARG, a geometry-enhanced protein language modeling framework that overcomes the limitations of sequence homology to successfully identify thousands of evolutionarily distant and structurally conserved antibiotic resistance genes in metagenomic data.