🧬 Category

q-bio

4244 papers

🧬 biology

Common variants in the lysosomal pathway contribute to Parkinson's Disease risk

This study demonstrates that a lysosomal pathway-specific polygenic risk score, derived from 49 independent SNPs including 14 novel variants, significantly predicts Parkinson's disease risk across European and East Asian populations and identifies individuals with a high likelihood of future disease onset, thereby supporting the central role of endolysosomal biology in PD pathogenesis and the utility of pathway-informed genetic stratification for precision medicine.

P. Dimartino, A. Tenghe, S. Khodaee, A. A.K. Sreelatha, C. Domenighetti, P. E. Sugier, C. Schulte, B. Portugal, P. May (…)2026-08-06
🧬 biology

Molecular investigation of coronavirus and Leptospira spp. in bats (Chiroptera, Mammalia) from Brazil

This study conducted molecular surveillance for coronaviruses and *Leptospira* spp. in non-hematophagous bats from northwestern São Paulo, Brazil, between 2019 and 2024, finding no evidence of these pathogens in the sampled tissues while emphasizing the need for broader, standardized monitoring to account for sampling limitations.

Raquel Cuba Gaspar, Benedito Donizete Menozzi, Anna Luisa Pizzaia Henrique, Gismelli Cristiane Angeluci, Nycolas Octavio (…)2026-08-06
🧬 biology

A Weighted PRS for Ischemic Heart Disease: Candidate-Gene Associations and an Evaluation of Epistasis and Machine-Learning Approaches

This Pakistani case–control study identifies significant associations between specific candidate genes and ischemic heart disease, demonstrating that a simple weighted polygenic risk score effectively stratifies risk while revealing that epistatic weighting and machine-learning classifiers offer no added value due to study design limitations rather than true genetic signal.

Anam Ijaz, sara aslam, NA Shabana2026-08-06
🧬 biology

Strain-Specific Reduction of Ndel1 Enzymatic Activity During Early Zika Virus Infection in the Neonatal Brain

This study demonstrates that early Zika virus infection in the neonatal brain specifically reduces Ndel1 enzymatic activity in a strain-dependent manner, with the Brazilian lineage causing significant post-transcriptional suppression of this critical neuronal enzyme while African lineage and dengue virus do not, thereby linking this molecular dysfunction to the unique neurodevelopmental impairment associated with the Brazilian strain.

Mirian A. F. Hayashi2026-08-06
🧬 biology

ProtSyntax: a protein large language model for decoding post-translational modification syntax and function

ProtSyntax is a 4-billion-parameter protein large language model that overcomes the limitations of treating post-translational modifications (PTMs) as independent labels by integrating residue chemistry, motif order, and 3D context to accurately predict PTM sites, model crosstalk, and decode their functional consequences across diverse biological applications.

Yiyu Lin, Jiahui Wu, You Zhou, Xinye Ni, Shan Chang, Jun Ding, Yan Wang, Xin Gao, Sen Yang2026-08-06
🧬 biology

MicroRNAs Associated with Disease-Stage Progression in Diabetic Retinopathy and Macular Edema: A Bioinformatic Reanalysis of Public Transcriptomic Data

This bioinformatic reanalysis of public human retinal transcriptomic data identifies a specific set of differentially expressed microRNAs that converge on immune regulation and mitochondrial metabolism pathways, offering plausible candidate regulators for diabetic retinopathy progression and potential insights into anti-VEGF resistance in diabetic macular edema.

Luis Jesuino de Oliveira Andrade, Gabriela Correia Matos de Oliveira, Caroline Santos França, Alcina Maria Vinhaes Bitte (…)2026-08-06
🧬 biology

Gut microbiota and pancreatic cancer risk: A hypothesis-generating two-step Mendelian randomization study with cross-ancestry validation

This two-step Mendelian randomization study with cross-ancestry validation provides genetic evidence that specific gut microbiota are causally associated with reduced pancreatic cancer risk, potentially mediated through IL-6-related pathways, although the findings remain exploratory pending functional confirmation.

Weiwei Wang, Chengjia Tang, Xu Feng, Lili Wang, Wenke Li, Yongshuang Lv2026-08-06
🧬 biology

Large-scale cerebellar-cerebral network alterations underlying impaired social predictive processing in cerebellar neurodegeneration

This study demonstrates that cerebellar neurodegeneration impairs social predictive processing, particularly in personality trait judgments, by disrupting cerebellar-cerebral functional connectivity (specifically between lobule VIII and the putamen), which leads to an over-reliance on contextual cues and a failure to update behavior when social expectations are violated.

Libera Siciliano, Nicole Urbini, Giusy Olivito, Michelle Pisu, Martina Tanieli, Andrea Ciricugno, Viola Oldrati, Federic (…)2026-08-06
🧬 biology

Meta-analysis of Human Serum DIA proteome: Combining Datasets for AI Analysis

This study demonstrates that combining human serum DIA proteomics datasets from public repositories for AI-driven meta-analysis is currently unfeasible due to persistent, strong batch effects that generate false correlations and positives, suggesting that such datasets should instead be analyzed individually.

Kerry Ramsbottom, Andrew Collins, Ananth Prakash, Yasset Perez Riverol, Eric W. Deutsch, Juan Antonio Vizcaíno, Andrew R (…)2026-08-06
🧬 biology

Rotation, rescaling, or replacement? Decomposing organ adaptation in single-cell transformer representations

By leveraging three scGPT checkpoints with identical architectures but different pre-training corpora, this study demonstrates that organ-specific adaptation in single-cell transformers is minimal and concentrated in specific attention layers rather than global geometric transformations, suggesting that models trained on fewer than ten million cells largely retain their initialization noise and that general checkpoints are superior for extracting biological algorithms.

Liu Chen2026-08-06