🧬 Category

q-bio

3881 papers

🧬 biology

Computational Prioritization of BARD1 Missense Variants of Uncertain Significance Using Integrated REVEL, CADD, and AlphaMissense Predictions with gnomAD Population Frequency Stratification

This study integrates REVEL, CADD, and AlphaMissense predictions with gnomAD frequency data to identify 170 high-priority BARD1 missense variants of uncertain significance, predominantly located in the ANK and BRCT domains, as prime candidates for functional validation and clinical reclassification.

Dripto Roy2026-08-27✓ Author reviewed ⓘ
🧬 biology

Tissue Microstructural Heterogeneity Revealed by MR Microscopy

This study demonstrates that MR microscopy at micron-scale resolution reveals intrinsic tissue microstructural heterogeneity through the variance of relaxation times, a feature that is obscured at lower resolutions and suggests a departure from conventional fast-exchange assumptions due to incomplete diffusion-dependent mixing.

Bibek Dhakal, Benjamin M. Hardy, Xiaoyu Jiang, Adam W. Anderson, Mark D. Does, Junzhong Xu, John C. Gore2026-08-27
🧬 biology

Development of a Functional Diversity Index Using GPP, Rao's Quadratic Entropy, and Pianka's Index

This study proposes and mathematically validates a novel Functional Diversity Index (FDI) that integrates oxygen consumption and dietary niche composition using Rao's Quadratic Entropy and Pianka's Index, demonstrating its internal consistency and responsiveness to consumption distributions through NetLogo simulations and statistical analyses.

Aryan Ayyanger, Henil Parmar, Ahdav Vijay2026-08-27
🧬 biology

Claim-aware prioritization of microbiome-associated metabolite-target hypotheses using bifidobacterial genome context

This study presents a claim-aware workflow that integrates genomic mining, structural modeling, and targeted experimental validation to prioritize and transparently map microbiome-associated metabolite-target hypotheses, specifically identifying butyrate-HDAC and indole-IDO1 axes as strong candidates while clarifying that rumenic acid's observed anti-tumor effects are exogenous phenomena requiring further investigation rather than confirmed bifidobacterial production or PTGS2-mediated mechanisms.

Yilin Chen, Yiming Chen, Yan Zou2026-08-27
🧬 biology

Network Pharmacology and Molecular Mechanisms of Astragalus membranaceus (Huangqi) Targeting Kinase Pathways in Oncological, Cardiovascular, and Metabolic Diseases

This study utilizes network pharmacology to demonstrate that *Astragalus membranaceus* (Huangqi) exerts coordinated, multi-target therapeutic effects on oncological, cardiovascular, and metabolic diseases by modulating shared kinase-centered signaling pathways, particularly the MAPK, PI3K/AKT/mTOR, and JAK-STAT cascades.

Aldiyar Abdullayev2026-08-27
🧬 biology

Active-Voxel Selection for Small-Sample fMRI Decoding: Dataset-Dependent Preprocessing and the Cost of Cross-Validation Leakage

This paper demonstrates that in small-sample fMRI decoding, rigorous leakage-free methodology—specifically fully nested cross-validation and dataset-dependent preprocessing choices—yields reliable performance gains and exposes severe accuracy inflation from common validation errors, whereas active-voxel selection provides no additional benefit over standard anatomical masking within the ventral temporal cortex.

Tanay Chowdhury2026-08-27
🧬 biology

A biphasic astrocytic PTGDS trajectory marks a metabolic vulnerability stage in prodromal Alzheimer’s disease

This study identifies a statistically resolved, biphasic trajectory of astrocytic PTGDS that marks a critical metabolic inflection point during the transition from prodromal stability to accelerated decline in Alzheimer's disease, positioning it as a candidate stage-specific marker rather than a causal driver.

YoungOuk Kim, WooMyung Heo, Se Jin Park, YoungChul Kim, Ye Eun Cho, Ye-Won Lee, JungYeon Kim2026-08-27