Bioinformatics

Papers
(The median citation count of Bioinformatics is 7. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-08-01 to 2025-08-01.)
ArticleCitations
CondiS web app: imputation of censored lifetimes for machine learning-based survival analysis1456
ATLIGATOR: editing protein interactions with an atlas-based approach1013
LPTD: a novel linear programming-based topology determination method for cryo-EM maps822
Mocafe: a comprehensive Python library for simulating cancer development with Phase Field Models716
Integrated Genome Browser App Store583
PANPROVA: pangenomic prokaryotic evolution of full assemblies562
MuWU: Mutant-seq library analysis and annotation307
TRANSDIRE: data-driven direct reprogramming by a pioneer factor-guided trans-omics approach288
Deep Subspace Mutual Learning for cancer subtypes prediction287
OpenPhi: an interface to access Philips iSyntax whole slide images for computational pathology222
RVINN: a flexible modeling for inferring dynamic transcriptional and post-transcriptional regulation using physics-informed neural networks194
DivPro: diverse protein sequence design with direct structure recovery guidance190
The 2025 ISCB Accomplishments by a Senior Scientist Award—Dr Amos Bairoch170
Increasing confidence in proteomic spectral deconvolution through mass defect168
Accurate assembly of multiple RNA-seq samples with Aletsch139
Icolos: a workflow manager for structure-based post-processing of de novo generated small molecules135
Idéfix: identifying accidental sample mix-ups in biobanks using polygenic scores123
Reconstructing tumor clonal lineage trees incorporating single-nucleotide variants, copy number alterations and structural variations117
PsiNorm: a scalable normalization for single-cell RNA-seq data116
Detecting spatially co-expressed gene clusters with functional coherence by graph-regularized convolutional neural network112
Completing gene trees without species trees in sub-quadratic time109
SimPlot++: a Python application for representing sequence similarity and detecting recombination106
MAFFIN: metabolomics sample normalization using maximal density fold change with high-quality metabolic features and corrected signal intensities104
HelixGAN a deep-learning methodology for conditional de novo design of α-helix structures99
deTELpy: Python package for high-throughput detection of amino acid substitutions in mass spectrometry datasets89
Correction to: GTExVisualizer: a web platform for supporting ageing studies88
EvoAug-TF: extending evolution-inspired data augmentations for genomic deep learning to TensorFlow85
Statistical framework to determine indel-length distribution85
monaLisa: an R/Bioconductor package for identifying regulatory motifs84
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning83
DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome81
Prediction of whole-cell transcriptional response with machine learning80
Cross-species prediction of essential genes in insects76
VeloViz: RNA velocity-informed embeddings for visualizing cellular trajectories76
bollito: a flexible pipeline for comprehensive single-cell RNA-seq analyses75
Deconvolution of expression for nascent RNA-sequencing data (DENR) highlights pre-RNA isoform diversity in human cells75
ProSynAR: a reference aware read merger74
Exploring automatic inconsistency detection for literature-based gene ontology annotation73
MAGUS+eHMMs: improved multiple sequence alignment accuracy for fragmentary sequences73
Erratum to: GADGETS: a genetic algorithm for detecting epistasis using nuclear families71
Random field modeling of multi-trait multi-locus association for detecting methylation quantitative trait loci71
Aclust2.0: a revamped unsupervised R tool for Infinium methylation beadchips data analyses71
skandiver: a divergence-based analysis tool for identifying intercellular mobile genetic elements69
MetBP: a software tool for detection of interaction between metal ion–RNA base pairs68
trfermikit: a tool to discover VNTR-associated deletions67
Response to the letter to the editor: On the feasibility of dynamical analysis of network models of biochemical regulation66
Group-walk: a rigorous approach to group-wise false discovery rate analysis by target-decoy competition65
RNAglib: a python package for RNA 2.5 D graphs65
PyLiger: scalable single-cell multi-omic data integration in Python65
Continual knowledge infusion into pre-trained biomedical language models65
The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants64
CANTATA—prediction of missing links in Boolean networks using genetic programming64
Estimation of cancer cell fractions and clone trees from multi-region sequencing of tumors64
The ENDS of assumptions: an online tool for the epistemic non-parametric drug–response scoring61
ADViSELipidomics: a workflow for analyzing lipidomics data60
hapCon: estimating contamination of ancient genomes by copying from reference haplotypes60
DRUMMER—rapid detection of RNA modifications through comparative nanopore sequencing59
Oarfish: enhanced probabilistic modeling leads to improved accuracy in long read transcriptome quantification57
Harnessing deep learning for proteome-scale detection of amyloid signaling motifs57
Perceiver CPI: a nested cross-attention network for compound–protein interaction prediction57
From high-throughput evaluation to wet-lab studies: advancing mutation effect prediction with a retrieval-enhanced model57
WMDS.net: a network control framework for identifying key players in transcriptome programs56
RNAsolo: a repository of cleaned PDB-derived RNA 3D structures56
Fragmentstein—facilitating data reuse for cell-free DNA fragment analysis56
Decomposing mosaic tandem repeats accurately from long reads56
Evidential meta-model for molecular property prediction56
Floria: fast and accurate strain haplotyping in metagenomes56
MICER: a pre-trained encoder–decoder architecture for molecular image captioning55
Inference of 3D genome architecture by modeling overdispersion of Hi-C data55
The FASTQ+ format and PISA54
GMNN2CD: identification of circRNA–disease associations based on variational inference and graph Markov neural networks53
Deep Local Analysis deconstructs protein–protein interfaces and accurately estimates binding affinity changes upon mutation53
COVID-19 Spread Mapper: a multi-resolution, unified framework and open-source tool53
Deciphering high-order structures in spatial transcriptomes with graph-guided Tucker decomposition52
Hierarchical reinforcement learning for automatic disease diagnosis52
HDMC: a novel deep learning-based framework for removing batch effects in single-cell RNA-seq data51
From viral evolution to spatial contagion: a biologically modulated Hawkes model50
De novo protein design by an energy function based on series expansion in distance and orientation dependence50
MoMA-LoopSampler: a web server to exhaustively sample protein loop conformations49
LinkExplorer: predicting, explaining and exploring links in large biomedical knowledge graphs49
EDTox: an R Shiny application to predict the endocrine disruption potential of compounds49
BATL: Bayesian annotations for targeted lipidomics48
Prediction of gene co-expression from chromatin contacts with graph attention network48
DeepTrio: a ternary prediction system for protein–protein interaction using mask multiple parallel convolutional neural networks48
ViReMaShiny: an interactive application for analysis of viral recombination data47
hipFG: high-throughput harmonization and integration pipeline for functional genomics data46
minoTour, real-time monitoring and analysis for nanopore sequencers46
Powerful molecule generation with simple ConvNet46
Adaptive digital tissue deconvolution46
XSI—a genotype compression tool for compressive genomics in large biobanks46
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines45
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning45
Prediction and curation of missing biomedical identifier mappings with Biomappings45
CFAGO: cross-fusion of network and attributes based on attention mechanism for protein function prediction44
High-sensitivity pattern discovery in large, paired multiomic datasets44
BridgeDPI: a novel Graph Neural Network for predicting drug–protein interactions44
Erratum to: Assessing heterogeneity in spatial data using the HTA index with applications to spatial transcriptomics and imaging43
Transfer learning for drug–target interaction prediction43
Single-cell RNA sequencing data analysis based on non-uniformε−neighborhood network43
ECCB2022: the 21st European Conference on Computational Biology43
Avoiding C-hacking when evaluating survival distribution predictions with discrimination measures42
Microbench: automated metadata management for systems biology benchmarking and reproducibility in Python42
Correction of image distortion in large-field ssEM stitching by an unsupervised intermediate-space solving network42
OMEN: network-based driver gene identification using mutual exclusivity42
PltDB: a blood platelets-based gene expression database for disease investigation42
tcplfit2: an R-language general purpose concentration–response modeling package41
RawHummus: an R Shiny app for automated raw data quality control in metabolomics41
Tightly integrated multiomics-based deep tensor survival model for time-to-event prediction41
Functional characterization of co-phosphorylation networks41
mHapTk: a comprehensive toolkit for the analysis of DNA methylation haplotypes41
Prowler: a novel trimming algorithm for Oxford Nanopore sequence data41
scGrapHiC: deep learning-based graph deconvolution for Hi-C using single cell gene expression41
The minimizer Jaccard estimator is biased and inconsistent41
Multi-project and Multi-profile joint Non-negative Matrix Factorization for cancer omic datasets40
Cell type matching across species using protein embeddings and transfer learning40
Spectral clustering of single-cell multi-omics data on multilayer graphs40
Quantifying and correcting slide-to-slide variation in multiplexed immunofluorescence images40
Omnibus and robust deconvolution scheme for bulk RNA sequencing data integrating multiple single-cell reference sets and prior biological knowledge39
Generating synthetic genotypes using diffusion models38
PiLSL: pairwise interaction learning-based graph neural network for synthetic lethality prediction in human cancers38
A physics-informed neural SDE network for learning cellular dynamics from time-series scRNA-seq data38
Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach38
LipidOne: user-friendly lipidomic data analysis tool for a deeper interpretation in a systems biology scenario38
AdenPredictor: accurate prediction of the adenylation domain specificity of nonribosomal peptide biosynthetic gene clusters in microbial genomes38
SpecieScan: semi-automated taxonomic identification of bone collagen peptides from MALDI-ToF-MS37
Multi-level attention graph neural network based on co-expression gene modules for disease diagnosis and prognosis37
Comprehensive comparison of two types of algorithm for circRNA detection from short-read RNA-Seq37
Mining literature and pathway data to explore the relations of ketamine with neurotransmitters and gut microbiota using a knowledge-graph37
Geometry-complete perceptron networks for 3D molecular graphs37
Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics37
PractiCPP: a deep learning approach tailored for extremely imbalanced datasets in cell-penetrating peptide prediction37
RNA threading with secondary structure and sequence profile37
MS-Decipher: a user-friendly proteome database search software with an emphasis on deciphering the spectra of O-linked glycopeptides37
Modified RNAs and predictions with the ViennaRNA Package36
Single-cell mutation calling and phylogenetic tree reconstruction with loss and recurrence36
SL-Miner: a web server for mining evidence and prioritization of cancer-specific synthetic lethality36
Graph-theoretical prediction of biological modules in quaternary structures of large protein complexes36
PST-PRNA: prediction of RNA-binding sites using protein surface topography and deep learning36
Conumee 2.0: enhanced copy-number variation analysis from DNA methylation arrays for humans and mice35
Efficient gradient boosting for prognostic biomarker discovery35
LOCAN: a python library for analyzing single-molecule localization microscopy data35
Deep learning-based classification of breast cancer cells using transmembrane receptor dynamics34
CProMG: controllable protein-oriented molecule generation with desired binding affinity and drug-like properties34
The 2024 ISCB Overton Prize Award—Dr Martin Steinegger33
StructuralDPPIV: a novel deep learning model based on atom structure for predicting dipeptidyl peptidase-IV inhibitory peptides33
spatialTIME and iTIME: R package and Shiny application for visualization and analysis of immunofluorescence data33
MSNet-4mC: learning effective multi-scale representations for identifying DNA N4-methylcytosine sites33
2023 ISCB Overton Prize: Jingyi Jessica Li33
echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline33
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis33
Importance-Penalized Joint Graphical Lasso (IPJGL): differential network inference via GGMs32
An approachable, flexible and practical machine learning workshop for biologists32
Computational modeling of mRNA degradation dynamics using deep neural networks32
iSFun: an R package for integrative dimension reduction analysis32
SCONCE: a method for profiling copy number alterations in cancer evolution using single-cell whole genome sequencing32
Multiomix: a cloud-based platform to infer cancer genomic and epigenomic events associated with gene expression modulation32
scHiCPTR: unsupervised pseudotime inference through dual graph refinement for single-cell Hi-C data31
Globally Accessible Distributed Data Sharing (GADDS): a decentralized FAIR platform to facilitate data sharing in the life sciences31
MCRL: using a reference library to compress a metagenome into a non-redundant list of sequences, considering viruses as a case study31
AbDiver: a tool to explore the natural antibody landscape to aid therapeutic design31
MIAMI: mutual information-based analysis of multiplex imaging data30
statgenMPP: an R package implementing an IBD-based mixed model approach for QTL mapping in a wide range of multi-parent populations30
Forseti: a mechanistic and predictive model of the splicing status of scRNA-seq reads30
Semi-supervised data-integrated feature importance enhances performance and interpretability of biological classification tasks30
Efficient change-points detection for genomic sequences via cumulative segmented regression30
Improving dictionary-based named entity recognition with deep learning30
PeakBot: machine-learning-based chromatographic peak picking30
scSGL: kernelized signed graph learning for single-cell gene regulatory network inference30
OPUS-X: an open-source toolkit for protein torsion angles, secondary structure, solvent accessibility, contact map predictions and 3D folding29
Prediction of recovery from multiple organ dysfunction syndrome in pediatric sepsis patients29
Prediction of HIV sensitivity to monoclonal antibodies using aminoacid sequences and deep learning29
An automated multi-modal graph-based pipeline for mouse genetic discovery29
KCOSS: an ultra-fast k-mer counter for assembled genome analysis29
MIO: microRNA target analysis system for immuno-oncology29
scanMiR: a biochemically based toolkit for versatile and efficient microRNA target prediction29
GEnView: a gene-centric, phylogeny-based comparative genomics pipeline for bacterial genomes and plasmids29
SBGNview: towards data analysis, integration and visualization on all pathways29
Scbean: a python library for single-cell multi-omics data analysis28
Multistage attention-based extraction and fusion of protein sequence and structural features for protein function prediction28
Deep graph representations embed network information for robust disease marker identification28
Phenotype prediction from single-cell RNA-seq data using attention-based neural networks28
HAMPLE: deciphering TF-DNA binding mechanism in different cellular environments by characterizing higher-order nucleotide dependency28
Galaxy Helm chart: a standardized method for deploying production Galaxy servers28
Nezzle: an interactive and programmable visualization of biological networks in Python27
SplicingFactory—splicing diversity analysis for transcriptome data27
ToxIBTL: prediction of peptide toxicity based on information bottleneck and transfer learning27
SPRISS: approximating frequentk-mers by sampling reads, and applications27
Testing microbiome association using integrated quantile regression models27
WGA-LP: a pipeline for whole genome assembly of contaminated reads27
2022 ISCB Accomplishments by a Senior Scientist Award: Ron Shamir27
HyperGraphs.jl: representing higher-order relationships in Julia26
Foreign RNA spike-ins enable accurate allele-specific expression analysis at scale26
Optimal phylogenetic reconstruction of insertion and deletion events26
InterpolatedXY: a two-step strategy to normalize DNA methylation microarray data avoiding sex bias26
ELIXIR biovalidator for semantic validation of life science metadata26
GADGETS: a genetic algorithm for detecting epistasis using nuclear families26
Powerful and interpretable control of false discoveries in two-group differential expression studies26
Joint inference of cell lineage and mitochondrial evolution from single-cell sequencing data26
ReadItAndKeep: rapid decontamination of SARS-CoV-2 sequencing reads26
dsMTL: a computational framework for privacy-preserving, distributed multi-task machine learning26
Polyphest: fast polyploid phylogeny estimation26
CIndex: compressed indexes for fast retrieval of FASTQ files26
ORT: a workflow linking genome-scale metabolic models with reactive transport codes26
MixingDTA: improved drug–target affinity prediction by extending mixup with guilt-by-association25
MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics25
The 2025 ISCB Overton Prize Award—Dr James Zou25
Learning sparse log-ratios for high-throughput sequencing data25
A novel pipeline for computerized mouse spermatogenesis staging25
Querying multiple sets ofP-values through composed hypothesis testing25
ARTEMIS integrates autoencoders and Schrödinger Bridges to predict continuous dynamics of gene expression, cell population, and perturbation from time-series single-cell data24
AHoJ: rapid, tailored search and retrieval of apo and holo protein structures for user-defined ligands24
SEPA: signaling entropy-based algorithm to evaluate personalized pathway activation for survival analysis on pan-cancer data24
ATHENA: analysis of tumor heterogeneity from spatial omics measurements24
LoRA-DR-suite: adapted embeddings predict intrinsic and soft disorder from protein sequences24
RAxML Grove: an empirical phylogenetic tree database24
IMPACT: interpretable microbial phenotype analysis via microbial characteristic traits24
PDMDA: predicting deep-level miRNA–disease associations with graph neural networks and sequence features24
CATH-ddG: towards robust mutation effect prediction on protein–protein interactions out of CATH homologous superfamily24
Determining epitope specificity of T-cell receptors with transformers24
Position-Specific Enrichment Ratio Matrix scores predict antibody variant properties from deep sequencing data23
Driver gene detection through Bayesian network integration of mutation and expression profiles23
SNIKT: sequence-independent adapter identification and removal in long-read shotgun sequencing data23
Unsupervised construction of computational graphs for gene expression data with explicit structural inductive biases23
CellAnn: a comprehensive, super-fast, and user-friendly single-cell annotation web server23
Phylogenetic diversity statistics for all clades in a phylogeny23
Towards a reproducible interactome: semantic-based detection of redundancies to unify protein–protein interaction databases23
3D GAN image synthesis and dataset quality assessment for bacterial biofilm23
A unified mediation analysis framework for integrative cancer proteogenomics with clinical outcomes23
Comparing transmembrane protein structures with ATOLL23
TopHap: rapid inference of key phylogenetic structures from common haplotypes in large genome collections with limited diversity23
AutoCAT: automated cancer-associated TCRs discovery from TCR-seq data23
Biological Random Walks: multi-omics integration for disease gene prioritization22
Graph attention network for link prediction of gene regulations from single-cell RNA-sequencing data22
IntelliPy: a GUI for analyzing IntelliCage data22
CIBRA identifies genomic alterations with a system-wide impact on tumor biology22
SPEAR: Systematic ProtEin AnnotatoR22
AttentionPert: accurately modeling multiplexed genetic perturbations with multi-scale effects22
Multimodal medical image fusion using adaptive co-occurrence filter-based decomposition optimization model22
DDAffinity: predicting the changes in binding affinity of multiple point mutations using protein 3D structure22
Overcoming biases in causal inference of molecular interactions22
HOMELETTE: a unified interface to homology modelling software22
Explainable multimodal machine learning model for classifying pregnancy drug safety22
Looking at the BiG picture: incorporating bipartite graphs in drug response prediction22
Struct-f4: a Rcpp package for ancestry profile and population structure inference from f4-statistics22
TEspeX: consensus-specific quantification of transposable element expression preventing biases from exonized fragments22
REUNION: transcription factor binding prediction and regulatory association inference from single-cell multi-omics data22
CODEX: COunterfactual Deep learning for the in silico EXploration of cancer cell line perturbations22
A span-based joint model for extracting entities and relations of bacteria biotopes22
BSDE: barycenter single-cell differential expression for case–control studies22
Bayesian inference of fitness landscapes via tree-structured branching processes22
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