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Splice-Aware Optimization Prevents Pervasive Missplicing of Natural and Synthetic cDNAs
Mohd Ahmad, Fernando Bellido Molías, Laura Cano-Aroca, Christine Mordstein, Samir F. Watson, Nabid Bhuiyan, Marguerite J. Clarke, Chava Kimchi‐Sarfaty, Upendra Katneni, Eleanor R. Gaunt, Laurence D. Hurst, Nikolai Netuschil, Thomas Hofmeister, Michael A. Liss, Grzegorz R. Kudla
The paper identifies missplicing as a common issue in heterologous gene expression and develops a splice-aware optimization algorithm to improve transgene performance.
bioRxiv · May 25, 2026 · PreprintSynthetic Biology
Benchmarking normalisation methods for differential binding analysis in CUT&RUN
Krutika Ambani, Antonio Ahn, April C. S. Watt, Catherine Blyth, Brendan Russ, Michael Taylor, Shom Goel, Alicia Oshlack
This study benchmarks normalization methods for differential binding analysis in CUT&RUN, finding data-driven normalization to be most robust and highlighting variable performance of spike-in normalization.
bioRxiv · May 25, 2026 · PreprintBioinformatics
A Pipeline for Solving Edge-Matching Puzzles and Their Implications for Protein Folding
The paper develops a computational pipeline to solve complex edge-matching puzzles, demonstrating its effectiveness on a puzzle comparable to Eternity II and drawing parallels to protein folding challenges.
bioRxiv · May 24, 2026 · PreprintBiophysics
Single-cell multi-omic integration analysis prioritizes druggable genes and reveals cell-type-specific causal effects in glioblastomagenesis
The paper integrates GWAS with single-cell multi-omics to identify druggable genes and cell-type-specific causal effects in glioblastoma development.
Journal of Translational Medicine · May 23, 2026Peer-reviewedGenetic & Genomic Medicine
SpatialCCCbench: Standardized Metrics for the Systematic Evaluation of Spatial Cell-Cell Communication Methods
SpatialCCCbench evaluates spatial cell-cell communication methods using standardized metrics to guide tool selection and benchmark future developments.
bioRxiv · May 22, 2026 · PreprintBioinformatics
Benchmarking the impact of reference genome selection on taxonomic profiling accuracy
Jasper van Bemmelen, Ioanna Nika, Jasmijn A. Baaijens
This study benchmarks how reference genome selection affects taxonomic profiling accuracy across bacterial and viral datasets, showing context-dependent impacts on accuracy and computational efficiency.
BMC Genomics · May 22, 2026Peer-reviewedBioinformatics
Generalist large language models complement tailor-made predictors for tumor genomics interpretation
Jennifer Yu, Madison Darmofal, Michele Waters, January Choy, Thinh N. Tran, Chenlian Fu, Leah Morales, U Kaicheng, Ross L. Levine, Nikolaus Schultz, Michael F. Berger, Quaid Morris, Justin Jee
This paper evaluates generalist large language models (LLMs) in tumor genomic interpretation tasks, finding they can complement or outperform task-specific models in some cases.
bioRxiv · May 22, 2026 · PreprintGenomics
Scaffold-Lab: Critical Evaluation and Ranking of Protein Backbone Generation Methods in A Unified Framework
Zhuoqi Zheng, Bo Zhang, Bozitao Zhong, Kexin Liu, Kexin Liu, J F Zhu, Jinyu Yu, Ting Wei, Haifeng Chen
The paper evaluates and ranks protein backbone generation methods using a unified benchmark, identifying top-performing models in both unconditional and conditional generation.
PLoS Computational Biology · May 22, 2026Peer-reviewedBioinformatics
Selecting methods for draft GEM generation in multicellular eukaryotes: a comparative analysis
Natalia E. Jiménez, Mikael Espinoza, Sebastián Mejías, Sebastián N. Mendoza, Ignacia Segovia, J. Cristian Salgado, Carlos Conca, Ziomara P. Gerdtzen
This study compares seven automated tools for generating draft genome-scale metabolic models (GEMs) in multicellular eukaryotes, finding no single tool consistently outperforms others.
BMC Bioinformatics · May 22, 2026Peer-reviewedSystems Biology
Benchmarking full-length ITS metabarcoding across Illumina 2x500, PacBio, and Oxford Nanopore sequencing using mock and soil communities
Leho Tedersoo, Marko Prous, Meirong Chen, Sten Anslan, Irja Saar, Benjamin Dubois, Vladimir S. Mikryukov
The paper benchmarks full-length ITS metabarcoding across Illumina, PacBio, and Oxford Nanopore platforms using mock and soil communities, finding PacBio has the lowest error rate and recommends standard pipelines for biodiversity assessments.
bioRxiv · May 21, 2026 · PreprintBioinformatics
Sequential acquisition of 1p31.1-p12 LOH and 1q Gain is a common double-hit event in relapsed/refractory myeloma
Naser Ansari‐Pour, Sarah Gooding, Mohammad H. Kazeroun, Seyed Alireza Hasheminasab, Evie Fitzsimons, Selina J Chavda, Alessandro Laganà, Erin Flynt, Udo C. T. Oppermann, Karthik Ramasamy, Kwee Yong, Angela Hamblin, Jill Corre, Hervé Avet‐Loiseau, Nikhil C. Munshi, , Anjan Thakurta
The paper identifies a therapy-driven genomic double-hit (1pCEN LOH and 1q gain) in relapsed/refractory myeloma, associated with poor prognosis and clonal expansion.
bioRxiv · May 21, 2026 · PreprintCancer Biology
Patient-Calibrated Dynamical Modeling and Embedded Trend-Zone Predictive Control for Closed-Loop Deep Brain Stimulation in Parkinson's Disease
Yu Fan, Lingxiao Guan, Yuxuan Wu, Xuesong Luo, Huiling Yu, Luming Li
This paper develops a patient-calibrated dynamical model and predictive controller for closed-loop deep brain stimulation in Parkinson's disease, showing improved performance over existing control strategies.
bioRxiv · May 21, 2026 · PreprintNeuroscience
DNAS-Bench: Deterministic Nucleic Acid Screener Benchmarking
Henry C. Wong, Tadayoshi Kohno, Jeff Nivala
DNAS-Bench evaluates Biosecurity Screening Software by testing its ability to detect malicious sequences in synthetic DNA, finding that simple sequence manipulations can bypass many systems.
IEEE Security and Privacy Workshops (SPW) · May 21, 2026Peer-reviewedBioinformatics
Bigger Isn't Always Better: Comparing System Size, Hydration, and Software for Lipid Membrane Analysis
Filipe Carvalho, Pedro Maximiano, Pedro Nuno Simões, Mohtadin Hashemi
This study compares membrane structural properties across different system sizes and hydration levels, and evaluates four analysis software tools for their performance and consistency.
Biochimica et Biophysica Acta (BBA) - Biomembranes · May 20, 2026Peer-reviewedBiophysics
Benchmarking Static Gene Regulatory Network Reconstruction and Dynamic Transition Probing in Single-Cell Foundation Models.
Zhongni Ye, Ning Yang, Xiaojing Yang, Xiaowei Mao, Chao Tang
This study benchmarks static gene regulatory network reconstruction and dynamic transition probing in single-cell foundation models across multiple datasets and reference networks.
bioRxiv · May 20, 2026 · PreprintSystems Biology
Microbial network rewiring mediates the function-biosafety trade-off in transboundary Pamir lakes
Yuzheng Gu, Z. D. Liu, Chenhui Liu, Xiaoyun Gou, Yanhan Ji, Baozhan Wang, Xu Liu, Jiandong Jiang
The paper examines microbial network rewiring in transboundary Pamir lakes, revealing trade-offs between ecosystem function and biosafety under environmental pressures.
bioRxiv · May 19, 2026 · PreprintMicrobiology
Calibrated Prediction Intervals for Polygenic Scores: Updated Comparisons, Contextual Calibration, and Data Normalization
Chang Xu, Siyu Hou, Xiang Zhou
This paper compares two methods for creating calibrated prediction intervals for polygenic scores, showing their performance and the importance of normalization and preprocessing.
medRxiv · May 19, 2026 · PreprintGenetic & Genomic Medicine
Benchmarking strain-level profiling of Escherichia coli in short-read gut metagenomes
Matthew Galbraith, Williams David, Liam P. Shaw, Samuel Lipworth, Nicole E Stoesser
This study benchmarks six tools for strain-level profiling of E. coli in short-read gut metagenomes, showing significant variation in performance and highlighting StrainR2's high accuracy and PathoScope 2.0/StrainGE's robustness in unknown strain scenarios.
bioRxiv · May 19, 2026 · PreprintBioinformatics
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Ben Heavner, Marsha M. Wheeler, Jesse D. Bengtsson, Claudia M.B. Carvalho, Warren Cheung, Matthew P. Conomos, Emmanuèle C. Délot, Stephanie P. DiTroia, Vijay S Ganesh, Stephanie M. Gogarten, Christopher M. Grochowski, Shalini N. Jhangiani, Charles Hadley S. King, Cas LeMaster, Colby T. Marvin, , Jessica X. Chong
The paper introduces a data model and dataset for rare disease research, enabling interoperable multi-omic data integration across clinical sites.
bioRxiv · May 19, 2026 · PreprintGenomics
BiomniBench: Process-level Evaluation of LLM Agents for Real-world Biomedical Research
Yuanhao Qu, Yingzhou Lu, Xinming Tu, Serena Zhang, Tianwei She, Alexander Glenn Shaw, Jou‐Ho Shih, Bingqing Zhao, Minjie Shen, Haochen Yang, Jielin Yan, Rongchuan Zhang, Xinze Wu, Tingting Li, Bin Zhou, , Kexin Huang
BiomniBench evaluates LLM agents' research processes in biomedical tasks using expert rubrics, revealing performance gaps in method selection and reasoning.
bioRxiv · May 18, 2026 · PreprintBioinformatics
Integrative Genomic Analyses Identify COL21A1 and ENPEP-FGF5 Regulatory Pathways for Blood Pressure Variation in East Asians
Zhi Chng Lau, Xuling Chang, Kar Seng Sim, Hao Wu, Arshia Naaz, Umamaheswari Muniasamy, Chiea-Chuen Khor, Woon-Puay Koh, Sorokin Vitaly, Rajkumar Dorajoo
bioRxiv · May 18, 2026 · PreprintGenetics
Cosine Similarity Conflates Clinically Distinct Cancer Variants: A Case for Typed-Graph Retrieval in Precision Oncology Decision Support
This paper shows cosine similarity in RAG systems conflates clinically distinct cancer variants, proposing typed-graph retrieval as a more accurate alternative for precision oncology.
bioRxiv · May 17, 2026 · PreprintBioinformatics
MetaNet: a scalable and integrated tool for reproducible omics network analysis
Peng Chen, Liuyiqi Jiang, Zinuo Huang, Xin Wei, Xiaoping Zhu, Zhen Liu, Qiong Chen, Xiaotao Shen, Peng Gao, Chao Jiang
MetaNet is an R package for scalable multi-omics network analysis, offering faster computation and better memory efficiency than existing tools, with applications in microbial and exposome-transcriptome studies.
Bioinformatics · May 16, 2026Peer-reviewedBioinformatics
A unified benchmark of synthetic data generation for clinical transcriptomic cancer cohorts
The-Chuong Trinh, Jean‐Baptiste Woillard, Guido Uguzzoni, Christophe Battail
This paper benchmarks synthetic data generation methods for clinical transcriptomic cancer data, finding no single method outperforms all metrics, with Gaussian Copula showing the most balanced performance.
bioRxiv · May 16, 2026 · PreprintBioinformatics
Widespread DNA off-targeting confounds studies of RNA chromatin occupancy
Micah Jonathan Goldrich, Louis Delhaye, Sarah-Lee Bekaert, Bieke Decaesteker, Filip Van Nieuwerburgh, Frank Speleman, Sven Eyckerman, Pieter Mestdagh, Igor Ulitsky
The paper shows that many reported RNA-chromatin interactions are technical artifacts caused by DNA off-targeting, not true biological interactions.
Nature Biotechnology · May 15, 2026Peer-reviewedMolecular Biology
Accelerated neural aging as a systems-level vulnerability for tinnitus
Fabian Schmidt, Gianpaolo Demarchi, Nadia Müller, Seyed Mostafa Kia, Eugen Trinka, Nathan Weisz
This study identifies accelerated neural aging as a risk factor for tinnitus by analyzing MEG and structural imaging data from multiple datasets.
bioRxiv · May 15, 2026 · PreprintNeuroscience
Benchmarking siRNA Prediction: The Role of Representation and Validation Strategies
Aparajita Karmakar, Abdulhamid Merii, Angus N. M. Weir, Grzegorz R. Kudla, Mark Basham, Alex Lubbock
The paper benchmarks siRNA prediction methods, showing that rigorous cross-validation and z-curve representation improve performance and reliability.
bioRxiv · May 14, 2026 · PreprintBioinformatics
The impact of long-read sequencing on fungal genome assemblies: progress and disparity
Erika Kroll, Yedomon Ange Bovys Zoclanclounon, Martin Urban, Rowena Hill, Kim E. Hammond-Kosack
This paper reviews the impact of long-read sequencing on fungal genome assemblies, highlighting progress, disparities, and remaining taxonomic gaps.
bioRxiv · May 14, 2026 · PreprintGenomics
Benchmarking Boltz-2 for Screening of Therapeutic Antibody-Antigen Interactions
Alexandra Fieux-Castagnet, Julian Waton, Alina Glukhonemykh, Eric Snow, Roshini Ashokkumar, Jess Fleming, David Champagne, Thomas Devenyns, Alex Peluffo, Christoforos Anagnostopoulos
The paper benchmarks Boltz-2 for screening therapeutic antibody-antigen interactions, finding weak but above-chance discrimination and limited benefit from extensive sampling.
bioRxiv · May 14, 2026 · PreprintBioinformatics