Bioinformatics

Papers
(The TQCC of Bioinformatics is 15. 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 2021-11-01 to 2025-11-01.)
ArticleCitations
The 2025 ISCB Accomplishments by a Senior Scientist Award—Dr Amos Bairoch1692
DivPro: diverse protein sequence design with direct structure recovery guidance1228
RVINN: a flexible modeling for inferring dynamic transcriptional and post-transcriptional regulation using physics-informed neural networks808
LPTD: a novel linear programming-based topology determination method for cryo-EM maps735
Integrated Genome Browser App Store706
PANPROVA: pangenomic prokaryotic evolution of full assemblies395
CondiS web app: imputation of censored lifetimes for machine learning-based survival analysis329
ATLIGATOR: editing protein interactions with an atlas-based approach298
TRANSDIRE: data-driven direct reprogramming by a pioneer factor-guided trans-omics approach247
CompareM2 is a genomes-to-report pipeline for comparing microbial genomes234
MRDagent: iterative and adaptive parameter optimization for stable ctDNA-based MRD detection in heterogeneous samples218
getDNB: identifying dynamic network biomarkers of hepatocellular carcinoma from time-varying gene regulations utilizing graph embedding techniques for anomaly detection199
MAFFIN: metabolomics sample normalization using maximal density fold change with high-quality metabolic features and corrected signal intensities157
Increasing confidence in proteomic spectral deconvolution through mass defect128
monaLisa: an R/Bioconductor package for identifying regulatory motifs127
Mocafe: a comprehensive Python library for simulating cancer development with Phase Field Models123
EvoAug-TF: extending evolution-inspired data augmentations for genomic deep learning to TensorFlow120
Statistical framework to determine indel-length distribution116
Correction to: GTExVisualizer: a web platform for supporting ageing studies111
Detecting spatially co-expressed gene clusters with functional coherence by graph-regularized convolutional neural network106
ProteinLIPs: a web server for identifying highly polar and poorly packed interfaces in proteins100
Icolos: a workflow manager for structure-based post-processing of de novo generated small molecules99
Accurate assembly of multiple RNA-seq samples with Aletsch94
HelixGAN a deep-learning methodology for conditional de novo design of α-helix structures94
deTELpy: Python package for high-throughput detection of amino acid substitutions in mass spectrometry datasets91
Completing gene trees without species trees in sub-quadratic time86
Memory-efficient, accelerated protein interaction inference with blocked, multi-GPU D-SCRIPT86
Scalable inference and identifiability of kinetic parameters for transcriptional bursting from single cell data86
Reconstructing tumor clonal lineage trees incorporating single-nucleotide variants, copy number alterations and structural variations85
SimPlot++: a Python application for representing sequence similarity and detecting recombination84
Idéfix: identifying accidental sample mix-ups in biobanks using polygenic scores82
The ENDS of assumptions: an online tool for the epistemic non-parametric drug–response scoring81
Fragmentstein—facilitating data reuse for cell-free DNA fragment analysis76
Estimation of cancer cell fractions and clone trees from multi-region sequencing of tumors75
trfermikit: a tool to discover VNTR-associated deletions74
Inference of 3D genome architecture by modeling overdispersion of Hi-C data74
Cross-species prediction of essential genes in insects74
Exploring automatic inconsistency detection for literature-based gene ontology annotation73
Response to the letter to the editor: On the feasibility of dynamical analysis of network models of biochemical regulation73
Aclust2.0: a revamped unsupervised R tool for Infinium methylation beadchips data analyses70
Random field modeling of multi-trait multi-locus association for detecting methylation quantitative trait loci70
MetBP: a software tool for detection of interaction between metal ion–RNA base pairs66
skandiver: a divergence-based analysis tool for identifying intercellular mobile genetic elements66
From high-throughput evaluation to wet-lab studies: advancing mutation effect prediction with a retrieval-enhanced model65
Harnessing deep learning for proteome-scale detection of amyloid signaling motifs65
Perceiver CPI: a nested cross-attention network for compound–protein interaction prediction64
CANTATA—prediction of missing links in Boolean networks using genetic programming64
hapCon: estimating contamination of ancient genomes by copying from reference haplotypes64
Floria: fast and accurate strain haplotyping in metagenomes64
Erratum to: GADGETS: a genetic algorithm for detecting epistasis using nuclear families63
DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome63
RNAsolo: a repository of cleaned PDB-derived RNA 3D structures62
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning61
bollito: a flexible pipeline for comprehensive single-cell RNA-seq analyses59
ADViSELipidomics: a workflow for analyzing lipidomics data59
Group-walk: a rigorous approach to group-wise false discovery rate analysis by target-decoy competition59
MICER: a pre-trained encoder–decoder architecture for molecular image captioning58
MAGUS+eHMMs: improved multiple sequence alignment accuracy for fragmentary sequences58
ProSynAR: a reference aware read merger58
PyLiger: scalable single-cell multi-omic data integration in Python58
RNAglib: a python package for RNA 2.5 D graphs57
Decomposing mosaic tandem repeats accurately from long reads57
The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants57
Deep Local Analysis deconstructs protein–protein interfaces and accurately estimates binding affinity changes upon mutation56
Oarfish: enhanced probabilistic modeling leads to improved accuracy in long read transcriptome quantification55
The FASTQ+ format and PISA55
Evidential meta-model for molecular property prediction54
GMNN2CD: identification of circRNA–disease associations based on variational inference and graph Markov neural networks54
DRUMMER—rapid detection of RNA modifications through comparative nanopore sequencing53
Deciphering high-order structures in spatial transcriptomes with graph-guided Tucker decomposition53
WMDS.net: a network control framework for identifying key players in transcriptome programs53
COVID-19 Spread Mapper: a multi-resolution, unified framework and open-source tool52
hipFG: high-throughput harmonization and integration pipeline for functional genomics data52
HDMC: a novel deep learning-based framework for removing batch effects in single-cell RNA-seq data51
Adaptive digital tissue deconvolution50
minoTour, real-time monitoring and analysis for nanopore sequencers50
Hierarchical reinforcement learning for automatic disease diagnosis50
Single-cell RNA sequencing data analysis based on non-uniformε−neighborhood network49
CFAGO: cross-fusion of network and attributes based on attention mechanism for protein function prediction49
BATL: Bayesian annotations for targeted lipidomics48
From viral evolution to spatial contagion: a biologically modulated Hawkes model48
Powerful molecule generation with simple ConvNet48
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines48
XSI—a genotype compression tool for compressive genomics in large biobanks48
ViReMaShiny: an interactive application for analysis of viral recombination data47
LinkExplorer: predicting, explaining and exploring links in large biomedical knowledge graphs46
Prediction and curation of missing biomedical identifier mappings with Biomappings46
Estimating sparse regression models in multi-task learning and transfer learning through adaptive penalisation45
Delineating inter- and intra-antibody repertoire evolution with AntibodyForests45
Prediction of gene co-expression from chromatin contacts with graph attention network45
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning45
Transfer learning for drug–target interaction prediction45
BridgeDPI: a novel Graph Neural Network for predicting drug–protein interactions44
ECCB2022: the 21st European Conference on Computational Biology44
EDTox: an R Shiny application to predict the endocrine disruption potential of compounds44
High-sensitivity pattern discovery in large, paired multiomic datasets44
Correction of image distortion in large-field ssEM stitching by an unsupervised intermediate-space solving network43
The minimizer Jaccard estimator is biased and inconsistent43
Microbench: automated metadata management for systems biology benchmarking and reproducibility in Python43
RawHummus: an R Shiny app for automated raw data quality control in metabolomics43
A physics-informed neural SDE network for learning cellular dynamics from time-series scRNA-seq data42
Omnibus and robust deconvolution scheme for bulk RNA sequencing data integrating multiple single-cell reference sets and prior biological knowledge42
Geometry-complete perceptron networks for 3D molecular graphs42
SL-Miner: a web server for mining evidence and prioritization of cancer-specific synthetic lethality42
Avoiding C-hacking when evaluating survival distribution predictions with discrimination measures41
Spectral clustering of single-cell multi-omics data on multilayer graphs41
Single-cell mutation calling and phylogenetic tree reconstruction with loss and recurrence41
Comprehensive comparison of two types of algorithm for circRNA detection from short-read RNA-Seq41
scGrapHiC: deep learning-based graph deconvolution for Hi-C using single cell gene expression40
MS-Decipher: a user-friendly proteome database search software with an emphasis on deciphering the spectra of O-linked glycopeptides40
Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach40
Functional characterization of co-phosphorylation networks39
AdenPredictor: accurate prediction of the adenylation domain specificity of nonribosomal peptide biosynthetic gene clusters in microbial genomes39
OMEN: network-based driver gene identification using mutual exclusivity38
Cell type matching across species using protein embeddings and transfer learning38
Modified RNAs and predictions with the ViennaRNA Package38
SpecieScan: semi-automated taxonomic identification of bone collagen peptides from MALDI-ToF-MS38
RNA threading with secondary structure and sequence profile37
LipidOne: user-friendly lipidomic data analysis tool for a deeper interpretation in a systems biology scenario37
Tightly integrated multiomics-based deep tensor survival model for time-to-event prediction37
CProMG: controllable protein-oriented molecule generation with desired binding affinity and drug-like properties36
Conformal inference for reliable single cell RNA-seq annotation34
Accessible, uniform protein property prediction with a scikit-learn based toolset AIDE34
mHapTk: a comprehensive toolkit for the analysis of DNA methylation haplotypes34
Generating synthetic genotypes using diffusion models34
LOCAN: a python library for analyzing single-molecule localization microscopy data33
PiLSL: pairwise interaction learning-based graph neural network for synthetic lethality prediction in human cancers33
Quantifying and correcting slide-to-slide variation in multiplexed immunofluorescence images33
Conumee 2.0: enhanced copy-number variation analysis from DNA methylation arrays for humans and mice33
PractiCPP: a deep learning approach tailored for extremely imbalanced datasets in cell-penetrating peptide prediction33
BAV-LLPS: a database of bacterial, archaea, and virus liquid–liquid phase separation proteins33
Graph-theoretical prediction of biological modules in quaternary structures of large protein complexes32
Mining literature and pathway data to explore the relations of ketamine with neurotransmitters and gut microbiota using a knowledge-graph32
PST-PRNA: prediction of RNA-binding sites using protein surface topography and deep learning32
PltDB: a blood platelets-based gene expression database for disease investigation32
Multi-level attention graph neural network based on co-expression gene modules for disease diagnosis and prognosis32
tcplfit2: an R-language general purpose concentration–response modeling package32
Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics32
Efficient gradient boosting for prognostic biomarker discovery31
The 2024 ISCB Overton Prize Award—Dr Martin Steinegger31
Scbean: a python library for single-cell multi-omics data analysis31
2023 ISCB Overton Prize: Jingyi Jessica Li31
Computational modeling of mRNA degradation dynamics using deep neural networks31
Galaxy Helm chart: a standardized method for deploying production Galaxy servers31
SCONCE: a method for profiling copy number alterations in cancer evolution using single-cell whole genome sequencing31
HAMPLE: deciphering TF-DNA binding mechanism in different cellular environments by characterizing higher-order nucleotide dependency30
PeakBot: machine-learning-based chromatographic peak picking30
Forseti: a mechanistic and predictive model of the splicing status of scRNA-seq reads30
Improving dictionary-based named entity recognition with deep learning30
An automated multi-modal graph-based pipeline for mouse genetic discovery30
MIAMI: mutual information-based analysis of multiplex imaging data30
spatialTIME and iTIME: R package and Shiny application for visualization and analysis of immunofluorescence data30
iSFun: an R package for integrative dimension reduction analysis30
Multistage attention-based extraction and fusion of protein sequence and structural features for protein function prediction30
MIO: microRNA target analysis system for immuno-oncology29
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis29
Semi-supervised data-integrated feature importance enhances performance and interpretability of biological classification tasks29
StructuralDPPIV: a novel deep learning model based on atom structure for predicting dipeptidyl peptidase-IV inhibitory peptides29
Phenotype prediction from single-cell RNA-seq data using attention-based neural networks29
Deep graph representations embed network information for robust disease marker identification29
ToxIBTL: prediction of peptide toxicity based on information bottleneck and transfer learning29
Prediction of recovery from multiple organ dysfunction syndrome in pediatric sepsis patients28
Globally Accessible Distributed Data Sharing (GADDS): a decentralized FAIR platform to facilitate data sharing in the life sciences28
GEnView: a gene-centric, phylogeny-based comparative genomics pipeline for bacterial genomes and plasmids28
An approachable, flexible and practical machine learning workshop for biologists28
AbDiver: a tool to explore the natural antibody landscape to aid therapeutic design28
scSGL: kernelized signed graph learning for single-cell gene regulatory network inference28
MSNet-4mC: learning effective multi-scale representations for identifying DNA N4-methylcytosine sites28
scHiCPTR: unsupervised pseudotime inference through dual graph refinement for single-cell Hi-C data28
statgenMPP: an R package implementing an IBD-based mixed model approach for QTL mapping in a wide range of multi-parent populations27
scanMiR: a biochemically based toolkit for versatile and efficient microRNA target prediction27
Nezzle: an interactive and programmable visualization of biological networks in Python27
KCOSS: an ultra-fast k-mer counter for assembled genome analysis27
Prediction of HIV sensitivity to monoclonal antibodies using aminoacid sequences and deep learning27
ELIXIR biovalidator for semantic validation of life science metadata27
dsMTL: a computational framework for privacy-preserving, distributed multi-task machine learning27
SPRISS: approximating frequentk-mers by sampling reads, and applications27
SBGNview: towards data analysis, integration and visualization on all pathways27
2022 ISCB Accomplishments by a Senior Scientist Award: Ron Shamir27
Powerful and interpretable control of false discoveries in two-group differential expression studies26
LoRA-DR-suite: adapted embeddings predict intrinsic and soft disorder from protein sequences26
GADGETS: a genetic algorithm for detecting epistasis using nuclear families26
CellAnn: a comprehensive, super-fast, and user-friendly single-cell annotation web server26
CATH-ddG: towards robust mutation effect prediction on protein–protein interactions out of CATH homologous superfamily26
Foreign RNA spike-ins enable accurate allele-specific expression analysis at scale26
The 2025 ISCB Overton Prize Award—Dr James Zou26
MixingDTA: improved drug–target affinity prediction by extending mixup with guilt-by-association26
ORT: a workflow linking genome-scale metabolic models with reactive transport codes25
ARTEMIS integrates autoencoders and Schrödinger Bridges to predict continuous dynamics of gene expression, cell population, and perturbation from time-series single-cell data25
Optimal phylogenetic reconstruction of insertion and deletion events25
Joint inference of cell lineage and mitochondrial evolution from single-cell sequencing data25
Balancing complexity and clarity—towards clinician-ready antibiotic resistance prediction models25
HyperGraphs.jl: representing higher-order relationships in Julia25
A novel pipeline for computerized mouse spermatogenesis staging25
AHoJ: rapid, tailored search and retrieval of apo and holo protein structures for user-defined ligands25
IMPACT: interpretable microbial phenotype analysis via microbial characteristic traits24
Driver gene detection through Bayesian network integration of mutation and expression profiles24
Position-Specific Enrichment Ratio Matrix scores predict antibody variant properties from deep sequencing data24
PDMDA: predicting deep-level miRNA–disease associations with graph neural networks and sequence features24
ReadItAndKeep: rapid decontamination of SARS-CoV-2 sequencing reads24
Determining epitope specificity of T-cell receptors with transformers24
RAxML Grove: an empirical phylogenetic tree database24
Polyphest: fast polyploid phylogeny estimation24
A unified mediation analysis framework for integrative cancer proteogenomics with clinical outcomes24
SEPA: signaling entropy-based algorithm to evaluate personalized pathway activation for survival analysis on pan-cancer data24
DeepProtein: deep learning library and benchmark for protein sequence learning24
SNIKT: sequence-independent adapter identification and removal in long-read shotgun sequencing data23
SPEAR: Systematic ProtEin AnnotatoR23
ATHENA: analysis of tumor heterogeneity from spatial omics measurements23
TopHap: rapid inference of key phylogenetic structures from common haplotypes in large genome collections with limited diversity23
CODEX: COunterfactual Deep learning for the in silico EXploration of cancer cell line perturbations23
Comparing transmembrane protein structures with ATOLL23
Unsupervised construction of computational graphs for gene expression data with explicit structural inductive biases23
InterpolatedXY: a two-step strategy to normalize DNA methylation microarray data avoiding sex bias23
Expanding the coverage of spatial proteomics: a machine learning approach22
Overcoming biases in causal inference of molecular interactions22
CIBRA identifies genomic alterations with a system-wide impact on tumor biology22
Somatic mutation effects diffused over microRNA dysregulation22
Biological Random Walks: multi-omics integration for disease gene prioritization22
3D Optical Coherence Tomography image processing in BISCAP: characterization of biofilm structure and properties22
REUNION: transcription factor binding prediction and regulatory association inference from single-cell multi-omics data22
Explainable multimodal machine learning model for classifying pregnancy drug safety22
DDAffinity: predicting the changes in binding affinity of multiple point mutations using protein 3D structure22
3D GAN image synthesis and dataset quality assessment for bacterial biofilm22
Thermometer: a webserver to predict protein thermal stability22
Bayesian inference of fitness landscapes via tree-structured branching processes22
ViTAL: Vision TrAnsformer based Low coverage SARS-CoV-2 lineage assignment22
Towards a reproducible interactome: semantic-based detection of redundancies to unify protein–protein interaction databases22
BACPI: a bi-directional attention neural network for compound–protein interaction and binding affinity prediction21
TEspeX: consensus-specific quantification of transposable element expression preventing biases from exonized fragments21
HOMELETTE: a unified interface to homology modelling software21
ODGI: understanding pangenome graphs21
SimBu: bias-aware simulation of bulk RNA-seq data with variable cell-type composition21
Phylogenetic diversity statistics for all clades in a phylogeny21
Looking at the BiG picture: incorporating bipartite graphs in drug response prediction21
BSDE: barycenter single-cell differential expression for case–control studies21
Struct-f4: a Rcpp package for ancestry profile and population structure inference from f4-statistics21
Pycallingcards: an integrated environment for visualizing, analyzing, and interpreting Calling Cards data21
NFTest: automated testing of Nextflow pipelines21
HiCARN: resolution enhancement of Hi-C data using cascading residual networks20
MolCL-SP: a multimodal contrastive learning framework with non-overlapping substructure perturbations for molecular property prediction20
GASTON-Mix: a unified model of spatial gradients and domains using spatial mixture-of-experts20
massNet: integrated processing and classification of spatially resolved mass spectrometry data using deep learning for rapid tumor delineation20
A penalized linear mixed model with generalized method of moments estimators for complex phenotype prediction20
PlasmoFAB: a benchmark to foster machine learning for Plasmodium falciparum protein antigen candidate prediction20
RiboGraph: an interactive visualization system for ribosome profiling data at read length resolution20
konnect2prot: a web application to explore the protein properties in a functional protein–protein interaction network20
M-Ionic: prediction of metal-ion-binding sites from sequence using residue embeddings20
End-to-end learning of evolutionary models to find coding regions in genome alignments20
scGAC: a graph attentional architecture for clustering single-cell RNA-seq data20
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