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 2021-12-01 to 2025-12-01.)
ArticleCitations
The 2025 ISCB Accomplishments by a Senior Scientist Award—Dr Amos Bairoch1764
DivPro: diverse protein sequence design with direct structure recovery guidance1323
RVINN: a flexible modeling for inferring dynamic transcriptional and post-transcriptional regulation using physics-informed neural networks840
LPTD: a novel linear programming-based topology determination method for cryo-EM maps774
Integrated Genome Browser App Store740
PANPROVA: pangenomic prokaryotic evolution of full assemblies439
CondiS web app: imputation of censored lifetimes for machine learning-based survival analysis341
deTELpy: Python package for high-throughput detection of amino acid substitutions in mass spectrometry datasets304
Memory-efficient, accelerated protein interaction inference with blocked, multi-GPU D-SCRIPT267
Statistical framework to determine indel-length distribution254
CompareM2 is a genomes-to-report pipeline for comparing microbial genomes225
MRDagent: iterative and adaptive parameter optimization for stable ctDNA-based MRD detection in heterogeneous samples209
getDNB: identifying dynamic network biomarkers of hepatocellular carcinoma from time-varying gene regulations utilizing graph embedding techniques for anomaly detection163
Mocafe: a comprehensive Python library for simulating cancer development with Phase Field Models133
Correction to: GTExVisualizer: a web platform for supporting ageing studies132
ProteinLIPs: a web server for identifying highly polar and poorly packed interfaces in proteins129
Detecting spatially co-expressed gene clusters with functional coherence by graph-regularized convolutional neural network129
IntegrAlign: a comprehensive tool for multi-immunofluorescence panel integration through image alignment127
NOODAI: a webserver for network-oriented multi-omics data analysis and integration pipeline117
Completing gene trees without species trees in sub-quadratic time115
Viral Diseases Explorer: a webtool to identify viral disease information derived from multiple LLMs105
ATLIGATOR: editing protein interactions with an atlas-based approach104
EvoAug-TF: extending evolution-inspired data augmentations for genomic deep learning to TensorFlow101
Icolos: a workflow manager for structure-based post-processing of de novo generated small molecules99
TRANSDIRE: data-driven direct reprogramming by a pioneer factor-guided trans-omics approach93
HelixGAN a deep-learning methodology for conditional de novo design of α-helix structures90
Increasing confidence in proteomic spectral deconvolution through mass defect89
Reconstructing tumor clonal lineage trees incorporating single-nucleotide variants, copy number alterations and structural variations88
MAFFIN: metabolomics sample normalization using maximal density fold change with high-quality metabolic features and corrected signal intensities88
SimPlot++: a Python application for representing sequence similarity and detecting recombination87
Accurate assembly of multiple RNA-seq samples with Aletsch87
monaLisa: an R/Bioconductor package for identifying regulatory motifs86
Fragmentstein—facilitating data reuse for cell-free DNA fragment analysis81
Cross-species prediction of essential genes in insects79
Response to the letter to the editor: On the feasibility of dynamical analysis of network models of biochemical regulation76
trfermikit: a tool to discover VNTR-associated deletions76
WMDS.net: a network control framework for identifying key players in transcriptome programs75
Exploring automatic inconsistency detection for literature-based gene ontology annotation74
insilicoSV: a flexible grammar-based framework for structural variant simulation and placement74
Oarfish: enhanced probabilistic modeling leads to improved accuracy in long read transcriptome quantification74
Random field modeling of multi-trait multi-locus association for detecting methylation quantitative trait loci72
MetBP: a software tool for detection of interaction between metal ion–RNA base pairs69
From high-throughput evaluation to wet-lab studies: advancing mutation effect prediction with a retrieval-enhanced model67
skandiver: a divergence-based analysis tool for identifying intercellular mobile genetic elements67
Harnessing deep learning for proteome-scale detection of amyloid signaling motifs67
CANTATA—prediction of missing links in Boolean networks using genetic programming66
Erratum to: GADGETS: a genetic algorithm for detecting epistasis using nuclear families66
Decomposing mosaic tandem repeats accurately from long reads65
ProSynAR: a reference aware read merger65
RNAglib: a python package for RNA 2.5 D graphs64
ADViSELipidomics: a workflow for analyzing lipidomics data63
AFragmenter: schema-free, tuneable protein domain segmentation for AlphaFold protein structures63
DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome62
Perceiver CPI: a nested cross-attention network for compound–protein interaction prediction62
The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants61
Deep Local Analysis deconstructs protein–protein interfaces and accurately estimates binding affinity changes upon mutation60
Estimation of cancer cell fractions and clone trees from multi-region sequencing of tumors60
Inference of 3D genome architecture by modeling overdispersion of Hi-C data59
The ENDS of assumptions: an online tool for the epistemic non-parametric drug–response scoring59
Group-walk: a rigorous approach to group-wise false discovery rate analysis by target-decoy competition59
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning58
The FASTQ+ format and PISA58
PyLiger: scalable single-cell multi-omic data integration in Python57
MPBind: a multitask protein binding site predictor using protein language models and equivariant GNNs56
GMNN2CD: identification of circRNA–disease associations based on variational inference and graph Markov neural networks56
hapCon: estimating contamination of ancient genomes by copying from reference haplotypes55
Aclust2.0: a revamped unsupervised R tool for Infinium methylation beadchips data analyses55
Evidential meta-model for molecular property prediction54
RNAsolo: a repository of cleaned PDB-derived RNA 3D structures54
Floria: fast and accurate strain haplotyping in metagenomes54
DRUMMER—rapid detection of RNA modifications through comparative nanopore sequencing53
MICER: a pre-trained encoder–decoder architecture for molecular image captioning52
Hierarchical reinforcement learning for automatic disease diagnosis51
HDMC: a novel deep learning-based framework for removing batch effects in single-cell RNA-seq data51
Deciphering high-order structures in spatial transcriptomes with graph-guided Tucker decomposition51
Single-cell RNA sequencing data analysis based on non-uniformε−neighborhood network50
Estimating sparse regression models in multi-task learning and transfer learning through adaptive penalisation50
Delineating inter- and intra-antibody repertoire evolution with AntibodyForests49
Prediction of gene co-expression from chromatin contacts with graph attention network49
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines48
From viral evolution to spatial contagion: a biologically modulated Hawkes model48
XSI—a genotype compression tool for compressive genomics in large biobanks48
BridgeDPI: a novel Graph Neural Network for predicting drug–protein interactions47
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning47
Transfer learning for drug–target interaction prediction47
EDTox: an R Shiny application to predict the endocrine disruption potential of compounds47
Prediction and curation of missing biomedical identifier mappings with Biomappings46
ViReMaShiny : an interactive application for analysis of viral recombination data46
COVID-19 Spread Mapper: a multi-resolution, unified framework and open-source tool46
Adaptive digital tissue deconvolution46
Powerful molecule generation with simple ConvNet45
BATL: Bayesian annotations for targeted lipidomics45
hipFG: high-throughput harmonization and integration pipeline for functional genomics data45
LinkExplorer: predicting, explaining and exploring links in large biomedical knowledge graphs45
High-sensitivity pattern discovery in large, paired multiomic datasets44
Correction of image distortion in large-field ssEM stitching by an unsupervised intermediate-space solving network44
CFAGO: cross-fusion of network and attributes based on attention mechanism for protein function prediction44
ECCB2022: the 21st European Conference on Computational Biology44
ShortCake: an integrated platform for efficient and reproducible single-cell analysis44
SL-Miner: a web server for mining evidence and prioritization of cancer-specific synthetic lethality43
Omnibus and robust deconvolution scheme for bulk RNA sequencing data integrating multiple single-cell reference sets and prior biological knowledge43
RawHummus: an R Shiny app for automated raw data quality control in metabolomics43
Avoiding C-hacking when evaluating survival distribution predictions with discrimination measures42
Geometry-complete perceptron networks for 3D molecular graphs42
Accessible, uniform protein property prediction with a scikit-learn based toolset AIDE42
MS-Decipher: a user-friendly proteome database search software with an emphasis on deciphering the spectra of O-linked glycopeptides42
RNA threading with secondary structure and sequence profile42
Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach40
scGrapHiC: deep learning-based graph deconvolution for Hi-C using single cell gene expression40
Functional characterization of co-phosphorylation networks40
SpecieScan: semi-automated taxonomic identification of bone collagen peptides from MALDI-ToF-MS39
OMEN: network-based driver gene identification using mutual exclusivity39
AdenPredictor: accurate prediction of the adenylation domain specificity of nonribosomal peptide biosynthetic gene clusters in microbial genomes38
Conformal inference for reliable single cell RNA-seq annotation37
The minimizer Jaccard estimator is biased and inconsistent37
BAV-LLPS: a database of bacterial, archaea, and virus liquid–liquid phase separation proteins37
LOCAN: a python library for analyzing single-molecule localization microscopy data36
PST-PRNA: prediction of RNA-binding sites using protein surface topography and deep learning36
Quantifying and correcting slide-to-slide variation in multiplexed immunofluorescence images35
Mining literature and pathway data to explore the relations of ketamine with neurotransmitters and gut microbiota using a knowledge-graph35
Generating synthetic genotypes using diffusion models35
Graph-theoretical prediction of biological modules in quaternary structures of large protein complexes35
Single-cell mutation calling and phylogenetic tree reconstruction with loss and recurrence34
Microbench: automated metadata management for systems biology benchmarking and reproducibility in Python34
Spectral clustering of single-cell multi-omics data on multilayer graphs34
A physics-informed neural SDE network for learning cellular dynamics from time-series scRNA-seq data33
Cell type matching across species using protein embeddings and transfer learning33
Conumee 2.0: enhanced copy-number variation analysis from DNA methylation arrays for humans and mice33
The cell as a token: high-dimensional geometry in language models and cell embeddings33
CProMG: controllable protein-oriented molecule generation with desired binding affinity and drug-like properties33
LipidOne: user-friendly lipidomic data analysis tool for a deeper interpretation in a systems biology scenario33
Comprehensive comparison of two types of algorithm for circRNA detection from short-read RNA-Seq32
Using the UK Biobank as a global reference of worldwide populations: application to measuring ancestry diversity from GWAS summary statistics32
Tightly integrated multiomics-based deep tensor survival model for time-to-event prediction32
PiLSL: pairwise interaction learning-based graph neural network for synthetic lethality prediction in human cancers32
PltDB: a blood platelets-based gene expression database for disease investigation32
Efficient gradient boosting for prognostic biomarker discovery32
Modified RNAs and predictions with the ViennaRNA Package32
mHapTk: a comprehensive toolkit for the analysis of DNA methylation haplotypes32
PractiCPP: a deep learning approach tailored for extremely imbalanced datasets in cell-penetrating peptide prediction32
Multi-level attention graph neural network based on co-expression gene modules for disease diagnosis and prognosis31
Galaxy Helm chart: a standardized method for deploying production Galaxy servers31
iSFun: an R package for integrative dimension reduction analysis31
The 2024 ISCB Overton Prize Award—Dr Martin Steinegger31
MSNet-4mC: learning effective multi-scale representations for identifying DNA N4-methylcytosine sites31
2023 ISCB Overton Prize: Jingyi Jessica Li31
HAMPLE: deciphering TF-DNA binding mechanism in different cellular environments by characterizing higher-order nucleotide dependency31
Semi-supervised data-integrated feature importance enhances performance and interpretability of biological classification tasks30
Scbean: a python library for single-cell multi-omics data analysis30
GEnView: a gene-centric, phylogeny-based comparative genomics pipeline for bacterial genomes and plasmids30
An automated multi-modal graph-based pipeline for mouse genetic discovery30
Prediction of recovery from multiple organ dysfunction syndrome in pediatric sepsis patients30
scSGL: kernelized signed graph learning for single-cell gene regulatory network inference30
statgenMPP: an R package implementing an IBD-based mixed model approach for QTL mapping in a wide range of multi-parent populations30
scHiCPTR: unsupervised pseudotime inference through dual graph refinement for single-cell Hi-C data29
Prediction of HIV sensitivity to monoclonal antibodies using aminoacid sequences and deep learning29
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis29
Globally Accessible Distributed Data Sharing (GADDS): a decentralized FAIR platform to facilitate data sharing in the life sciences29
AbDiver: a tool to explore the natural antibody landscape to aid therapeutic design29
An approachable, flexible and practical machine learning workshop for biologists29
MIAMI: mutual information-based analysis of multiplex imaging data29
SCONCE: a method for profiling copy number alterations in cancer evolution using single-cell whole genome sequencing28
Forseti : a mechanistic and predictive model of the splicing status of scRNA-seq reads28
MIO: microRNA target analysis system for immuno-oncology28
scanMiR: a biochemically based toolkit for versatile and efficient microRNA target prediction28
Phenotype prediction from single-cell RNA-seq data using attention-based neural networks28
ToxIBTL: prediction of peptide toxicity based on information bottleneck and transfer learning28
Improving dictionary-based named entity recognition with deep learning28
StructuralDPPIV: a novel deep learning model based on atom structure for predicting dipeptidyl peptidase-IV inhibitory peptides28
PeakBot: machine-learning-based chromatographic peak picking28
2022 ISCB Accomplishments by a Senior Scientist Award: Ron Shamir27
The 2025 ISCB Overton Prize Award—Dr James Zou27
A unified mediation analysis framework for integrative cancer proteogenomics with clinical outcomes27
A novel pipeline for computerized mouse spermatogenesis staging27
LoRA-DR-suite: adapted embeddings predict intrinsic and soft disorder from protein sequences27
Balancing complexity and clarity—towards clinician-ready antibiotic resistance prediction models27
Nezzle: an interactive and programmable visualization of biological networks in Python27
Driver gene detection through Bayesian network integration of mutation and expression profiles27
MixingDTA: improved drug–target affinity prediction by extending mixup with guilt-by-association27
IMPACT: interpretable microbial phenotype analysis via microbial characteristic traits27
Multistage attention-based extraction and fusion of protein sequence and structural features for protein function prediction27
Joint inference of cell lineage and mitochondrial evolution from single-cell sequencing data27
DeepProtein: deep learning library and benchmark for protein sequence learning26
ATHENA: analysis of tumor heterogeneity from spatial omics measurements26
SPRISS: approximating frequentk-mers by sampling reads, and applications25
HyperGraphs.jl: representing higher-order relationships in Julia25
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
ELIXIR biovalidator for semantic validation of life science metadata25
CATH-ddG: towards robust mutation effect prediction on protein–protein interactions out of CATH homologous superfamily25
dsMTL: a computational framework for privacy-preserving, distributed multi-task machine learning25
Polyphest: fast polyploid phylogeny estimation25
CellAnn: a comprehensive, super-fast, and user-friendly single-cell annotation web server25
Position-Specific Enrichment Ratio Matrix scores predict antibody variant properties from deep sequencing data25
Determining epitope specificity of T-cell receptors with transformers24
SEPA: signaling entropy-based algorithm to evaluate personalized pathway activation for survival analysis on pan-cancer data24
Powerful and interpretable control of false discoveries in two-group differential expression studies24
RAxML Grove: an empirical phylogenetic tree database24
ReadItAndKeep: rapid decontamination of SARS-CoV-2 sequencing reads24
Comparing transmembrane protein structures with ATOLL24
Foreign RNA spike-ins enable accurate allele-specific expression analysis at scale24
AHoJ: rapid, tailored search and retrieval of apo and holo protein structures for user-defined ligands24
PDMDA: predicting deep-level miRNA–disease associations with graph neural networks and sequence features24
InterpolatedXY: a two-step strategy to normalize DNA methylation microarray data avoiding sex bias24
Unsupervised construction of computational graphs for gene expression data with explicit structural inductive biases23
Thermometer: a webserver to predict protein thermal stability23
CIBRA identifies genomic alterations with a system-wide impact on tumor biology23
TEspeX: consensus-specific quantification of transposable element expression preventing biases from exonized fragments23
SPEAR: Systematic ProtEin AnnotatoR23
Expanding the coverage of spatial proteomics: a machine learning approach23
Somatic mutation effects diffused over microRNA dysregulation23
REUNION: transcription factor binding prediction and regulatory association inference from single-cell multi-omics data23
SNIKT: sequence-independent adapter identification and removal in long-read shotgun sequencing data23
Overcoming biases in causal inference of molecular interactions23
Bayesian inference of fitness landscapes via tree-structured branching processes23
Towards a reproducible interactome: semantic-based detection of redundancies to unify protein–protein interaction databases23
NFTest: automated testing of Nextflow pipelines22
Looking at the BiG picture: incorporating bipartite graphs in drug response prediction22
ViTAL: Vision TrAnsformer based Low coverage SARS-CoV-2 lineage assignment22
3D GAN image synthesis and dataset quality assessment for bacterial biofilm22
ConceptDrift: leveraging spatial, temporal and semantic evolution of biomedical concepts for hypothesis generation22
BSDE: barycenter single-cell differential expression for case–control studies22
CODEX: COunterfactual Deep learning for the in silico EXploration of cancer cell line perturbations21
HOMELETTE: a unified interface to homology modelling software21
Graph attention network for link prediction of gene regulations from single-cell RNA-sequencing data21
Pycallingcards: an integrated environment for visualizing, analyzing, and interpreting Calling Cards data21
SimBu : bias-aware simulation of bulk RNA-seq data with variable cell-type composition21
BACPI: a bi-directional attention neural network for compound–protein interaction and binding affinity prediction21
DDAffinity: predicting the changes in binding affinity of multiple point mutations using protein 3D structure21
AttentionPert: accurately modeling multiplexed genetic perturbations with multi-scale effects21
TopHap: rapid inference of key phylogenetic structures from common haplotypes in large genome collections with limited diversity21
Biological Random Walks: multi-omics integration for disease gene prioritization21
Phylogenetic diversity statistics for all clades in a phylogeny21
EDGE COVID-19: a web platform to generate submission-ready genomes from SARS-CoV-2 sequencing efforts21
ODGI: understanding pangenome graphs20
JBrowse Jupyter: a Python interface to JBrowse 220
MolCL-SP: a multimodal contrastive learning framework with non-overlapping substructure perturbations for molecular property prediction20
NMRpQuant: an automated software for large scale urinary total protein quantification by one-dimensional 1H NMR profiles20
PlasmoFAB: a benchmark to foster machine learning for Plasmodium falciparum protein antigen candidate prediction20
3D Optical Coherence Tomography image processing in BISCAP: characterization of biofilm structure and properties20
Exploiting pretrained biochemical language models for targeted drug design20
Atomic protein structure refinement using all-atom graph representations and SE(3)-equivariant graph transformer20
A penalized linear mixed model with generalized method of moments estimators for complex phenotype prediction20
Predicted structural proteome of Sphagnum divinum and proteome-scale annotation20
Struct-f4: a Rcpp package for ancestry profile and population structure inference from f4-statistics20
Strategies for robust, accurate, and generalizable benchmarking of drug discovery platforms20
GASTON-Mix: a unified model of spatial gradients and domains using spatial mixture-of-experts20
Optimal sequencing budget allocation for trajectory reconstruction of single cells20
Hierarchical modelling of microbial communities20
RiboGraph: an interactive visualization system for ribosome profiling data at read length resolution20
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