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27 papers
Ryder: Epigenome normalization using a two-tier model and internal reference regions
Yaqiang Cao, Guangzhe Ge, Keji Zhao
Ryder normalizes epigenomic bigWig tracks against stable internal reference regions such as invariant CTCF sites, correcting background and signal separately, recovering expected perturbation effects that depth-only normalization obscured.
bioRxiv · Sep 15, 2026 · PreprintBioinformatics✦ In-depth digest
mV2G: a multiomic atlas for tissue-specific variant-to-gene prioritization
Dean Y Zhang, Hufeng Zhou, Maya U. Sheth, Andreas R. Gschwind, J Engreitz, Xihong Lin, Hongbo Liu
A web atlas counts evidence from 24 types for 188,634,118 variant-gene pairs across 50 human tissues; 1,530,420 pairs pass a high-confidence cutoff, 87% of them tissue-specific.
bioRxiv · Aug 20, 2026 · PreprintGenomics✦ In-depth digest
Multidimensional variation and population stratification across 8000 complete human centromeres
Yanqing Sun, Shijie Wan, Lei Nie, Dan Yu, Feifei Zhou, Yi Yang, Xiangyu Yang, An Liu, Quanyu Chen, Kezhi Fu, Qingyang Ni, Yaoxi He, Bing Su, Yafei Mao, Kai Ye, , Wu Dongya
Over 8,000 gapless human centromeres reveal population-stratified satellite-array, inversion and haplotype variation, multiple candidate kinetochore sites in 16.8% of centromeres, and single-base substitution rates comparable to flanking pericentromeres.
bioRxiv · Jul 24, 2026 · PreprintGenomics✦ In-depth digest
Multi-omic Profiling of Recurrence Risk Across Breast Cancer Subtypes
A. Eden Cruikshank, Pooja Chandra, Christopher I. Li, Gavin Ha
This study identifies subtype-specific molecular and immune features associated with recurrence risk in breast cancer using multi-omic analysis of 340 tumors and validates predictive models in an external cohort.
medRxiv · Jul 14, 2026 · PreprintGenetic & Genomic Medicine
Programmable Nucleic Acid Sensing in Human Cells Using Circularizable ssDNA
Ahmed Mahas, Raphaël Ferreira, Lisa Maria Riedmayr, George McDonald Church
This paper introduces SONAR, a platform for detecting nucleic acids and triggering gene expression in human cells, demonstrating its ability to sense DNA and RNA and express various protein payloads.
Nature Communications · Jun 5, 2026Peer-reviewedBioengineering
A multiscale chromatin collapse underlies vascular pathology in Hutchinson -Gilford progeria syndrome
Mzwanele Ngubo, Naveen Ahuja, Rana Karimpour, Amit Shrestha, Michael J. Hendzel, Theodore J. Perkins, William L. Stanford
This study identifies chromatin reorganization and histone mark changes in HGPS VSMCs, linking them to vascular pathology through disrupted enhancer-promoter interactions.
bioRxiv · May 27, 2026 · PreprintGenomics
Cross-assay RNA modeling reveals cancer biomarkers
Hope A. Townsend, Kimberly Rae Jordan, Rebecca J. Wolsky, Lucy B. Van Kleunen, Natalie R. Davidson, Kian Behbakht, Matthew J. Sikora, Robin D. Dowell, Aaron Clauset, Benjamin Guy Bitler
This paper integrates multiple transcriptomics assays to identify cancer biomarkers, finding GBP4 as a predictor of recurrence and immune remodeling.
bioRxiv · May 5, 2026 · PreprintBioinformatics
Genomic and epigenomic maps of mouse centromeres and pericentromeres
Gitika Chaudhry, Jingyue Chen, Lucy Snipes, Smriti Bahl, Jenika Packiaraj, Xuan Lin, Jitendra Thakur
This study generates genomic and epigenomic maps of mouse centromeres and pericentromeres using long-read sequencing and epigenetic analyses, revealing satellite DNA composition and chromatin state differences.
Nature Communications · Nov 3, 2025Peer-reviewedGenomics
Integrating Multi-Modal Cancer Data Using Deep Latent Variable Path Modelling
A. J. Ing, Álvaro Andrades, Marco Raffaele Cosenza, Jan O. Korbel
This paper introduces DLVPM, a deep learning method for integrating multi-modal cancer data, showing improved performance in mapping associations between genetic, epigenetic, and histological features.
Nature Machine Intelligence · Jul 22, 2025Peer-reviewedCancer Biology
POCALI: Prediction and insight On CAncer LncRNAs by Integrating multi-omics data with machine learning
Ziyan Rao, Chenyang Wu, Yunxi Liao, Chuan Ye, Shaodong Huang, Dongyu Zhao
POCALI identifies cancer lncRNAs by integrating 44 multi-omics features, showing improved sensitivity and strong associations with cancer phenotypes.
Small Methods · May 23, 2025Peer-reviewedBioinformatics
A Combined Multi-Omics and Supervised Learning Strategy Uncovers an Epithelial Signature of Radiotherapy Response in Colorectal Cancer
Reuben Kumar, Yujie He, Jiarui Zhou, Andrew David Beggs, Deena M.A. Gendoo
The paper identifies a 101-biomarker signature predicting radiotherapy response in colorectal cancer using multi-omics and supervised learning, achieving 89% accuracy.
bioRxiv · Apr 10, 2025 · PreprintBioinformatics
CLCluster: a redundancy-reduction contrastive learning-based clustering method of cancer subtype based on multi-omics data
Hong Wang, Yi Zhang, Wen Li, Zhen Wei, Zhenlong Wang, Mengyuan Yang
CLCluster uses contrastive learning with multi-omics data to cluster cancer subtypes, showing improved performance over existing methods and identifying AS events linked to patient survival.
Molecular Therapy — Nucleic Acids · Apr 2, 2025Peer-reviewedBioinformatics
FROM CANCER MOLECULAR SUBTYPE TO AI HYPE: BENCHMARKING AI IN CANCER MOLECULAR SUBTYPING
Ahtisham Fazeel Abbasi, Muhammad Sajjad, Muhammad Nabeel Asim, Sebastian J. Vollmer, Andreas R. Dengel
This study benchmarks 35 AI classifiers across 153 cancer datasets to evaluate their performance in molecular subtype classification, identifying optimal data configurations and model types for different omics modalities and cancer types.
bioRxiv · Mar 10, 2025 · PreprintBioinformatics
Mapping eukaryotic chromatin accessibility and histone modifications with DNA deaminase
Wenyang Dong, Jiankun Zhang, Leyi Dai, Jinxin Phaedo Chen, Honggui Wu, Runsheng He, Yuxuan Pang, Zhi Wang, Fanchong Jian, Jun Ren, Yijun Liu, Yu Tian, Shuang Liu, Xuechen Zhao, Xiaoliang Sunney Xie
The paper introduces two new methods, ChrODIE and ANDIE, for mapping chromatin accessibility and histone modifications without enzymatic cleavage, enabling multi-omics integration.
bioRxiv · Dec 24, 2024 · PreprintGenomics
Analysis of live cell data with G-DNABERT supports a role for G-quadruplexes in chromatin looping
Dmitry Konovalov, Dmitriy Umerenkov, Alan G. Herbert, Maria S. Poptsova
The paper uses G4-DNABERT to map G-quadruplexes to enhancer and promoter regions, supporting their role in chromatin looping and gene regulation.
bioRxiv · Jun 21, 2024 · PreprintBioinformatics
DiffModeler: Large Macromolecular Structure Modeling in Low-Resolution Cryo-EM Maps Using Diffusion Model
Xiao Wang, Han Zhu, Genki Terashi, Manav Taluja, Daisuke Kihara
DiffModeler uses diffusion models to accurately model protein complex structures from low-resolution cryo-EM maps, achieving high TM-Scores across various resolutions.
bioRxiv · Jan 20, 2024 · PreprintBioinformatics
Alternative promoters in CpG depleted regions pervasively account for epigenetic misregulation of cancer transcriptomes
Chirag Nepal, Jesper Bøje Andersen
The paper identifies alternative promoters in cancer transcriptomes that are associated with epigenetic misregulation due to DNA methylation changes in CpG-depleted regions.
bioRxiv · Aug 2, 2022 · PreprintGenomics
Deep learning based on multi-omics integration identifies potential therapeutic targets in breast cancer
Xingxin Pan, Brandon Burgman, Nidhi Sahni, S. Stephen Yi
The paper develops a deep learning model integrating multi-omics data to stratify breast cancer patients by prognosis and identify potential therapeutic targets.
bioRxiv · Jan 18, 2022 · PreprintBioinformatics
FILER: large-scale, harmonized FunctIonaL gEnomics Repository
Pavel P. Kuksa, Yuk Yee Leung, Prabhakaran Gangadharan, Živadin Katanić, Lauren Elizabeth Kleidermacher, Alexandre Amlie‐Wolf, Chien‐Yueh Lee, Liming Qu, Emily Greenfest‐Allen, Otto Valladares, Li‐San Wang
FILER provides a large-scale, harmonized functional genomics data catalog with streamlined access to over 50,000 datasets and efficient querying capabilities.
NAR Genomics and Bioinformatics · Jan 14, 2022Peer-reviewedBioinformatics
An integrated mosquito small RNA genomics resource reveals dynamic evolution and host responses to viruses and transposons.
Qicheng Ma, Satyam P. Srivastav, Stephanie Gamez, Gargi Dayama, Fabiana Feitosa-Suntheimer, Edward I. Patterson, Rebecca M. Johnson, Erik M. Matson, Alexander S. Gold, Doug E. Brackney, John H. Connor, Tonya M. Colpitts, Grant L. Hughes, Jason L. Rasgon, Tony Nolan, , Nelson C. Lau
The paper develops an integrated resource to analyze small RNA profiles in mosquitoes, revealing evolutionary dynamics and host responses to viruses and transposons.
Genome Research · Mar 1, 2021Peer-reviewedGenomics
Evolutionary analyses of base-pairing interactions in DNA and RNA secondary structures
Michael Golden, Ben Murrell, Darren Patrick Martin, Oliver G. Pybus, Jotun Hein
MESSI infers coevolution rates of base-pairing interactions in nucleic acid sequences and identifies functionally important substructures.
Molecular Biology and Evolution · Oct 29, 2019Peer-reviewedMolecular Biology
Control of human testis-specific gene expression
The paper analyzes testis-specific genes to identify regulatory features and patterns associated with differentiation levels in human testis cells.
PLoS ONE · Sep 12, 2019Peer-reviewedDevelopmental Biology
Module analysis captures pancancer (epi)genetically deregulated cancer driver genes for smoking and antiviral response
Magali Champion, Kevin Brennan, Tom Croonenborghs, Andrew J. Gentles, Nathalie L.M.M. Pochet, Olivier Gevaert
This paper introduces AMARETTO, a multi-omics integration algorithm that identifies pancancer driver genes related to smoking and antiviral responses by analyzing eleven cancer types.
EBioMedicine · Dec 1, 2017Peer-reviewedBioinformatics
Universal correction of enzymatic sequence bias reveals molecular signatures of protein/DNA interactions
André L Martins, Ninad M. Walavalkar, Warren D. Anderson, Chongzhi Zang, Michael J. Guertin
The paper introduces seqOutBias to correct enzymatic sequence bias in sequencing data, improving the identification of molecular signatures from protein/DNA interactions.
Nucleic Acids Research · Oct 18, 2017Peer-reviewedGenomics
OncoScape: Exploring the cancer aberration landscape by genomic data fusion
Andreas Schlicker, Magali Michaut, Rubayte Rahman, Lodewyk Wessels
OncoScape integrates five genomic data types across 11 cancer types to identify new candidate cancer genes and reveals discrepancies between cell line and tumor aberrations.
bioRxiv · Mar 2, 2016Bioinformatics