Bioinformatics

Papers
(The TQCC of Bioinformatics is 9. 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 2022-08-01 to 2026-08-01.)
ArticleCitations
RVINN: a flexible modeling for inferring dynamic transcriptional and post-transcriptional regulation using physics-informed neural networks2387
Correction to: GTExVisualizer: a web platform for supporting ageing studies1990
ProteinLIPs: a web server for identifying highly polar and poorly packed interfaces in proteins374
IntegrAlign: a comprehensive tool for multi-immunofluorescence panel integration through image alignment282
NOODAI: a webserver for network-oriented multi-omics data analysis and integration pipeline199
Memory-efficient, accelerated protein interaction inference with blocked, multi-GPU D-SCRIPT151
Mixtum: a graphical tool for two-way admixture analysis in population genetics based on f -statistics132
FracFixR: a compositional statistical framework for absolute proportion estimation between fractions in RNA sequencing data116
FastDup: a scalable duplicate marking tool using speculation-and-test mechanism116
From genes to trajectories: mapping genetic influences on Huntington’s disease progression111
MDCompress: better, faster compression of molecular dynamics simulation trajectories110
MCOAN: multimodal contrastive representation learning for cross-omics adaptive disease regulatory network prediction96
ATLIGATOR: editing protein interactions with an atlas-based approach93
Icolos: a workflow manager for structure-based post-processing of de novo generated small molecules85
The 2025 ISCB Accomplishments by a Senior Scientist Award—Dr Amos Bairoch84
HelixGAN a deep-learning methodology for conditional de novo design of α-helix structures81
FUSE: data-driven functional segmentation of DNA methylation data80
NAViFluX: a visualization‑centric platform for interactive analysis, refinement and design of genome‑scale metabolic networks73
deTELpy: Python package for high-throughput detection of amino acid substitutions in mass spectrometry datasets73
Diagnosing scientific replicability through probabilistic distinguishability73
DivPro: diverse protein sequence design with direct structure recovery guidance72
A-liner: linear alignment visualizer for genome comparisons70
CodonMoE: DNA language models for codon-dependent mRNA prediction66
Viral Diseases Explorer: a webtool to identify viral disease information derived from multiple LLMs66
ChromCall: assigning chromatin status to defined genomic regions using epigenomic profiling data65
Increasing confidence in proteomic spectral deconvolution through mass defect60
HKD-CPI: high-order knowledge distillation enhanced inductive compound-protein interaction prediction60
LoMuS: low-rank adaptation with sequence multi-representation improves protein stability prediction60
Statistical framework to determine indel-length distribution59
getDNB: identifying dynamic network biomarkers of hepatocellular carcinoma from time-varying gene regulations utilizing graph embedding techniques for anomaly detection59
MRDagent: iterative and adaptive parameter optimization for stable ctDNA-based MRD detection in heterogeneous samples59
Accurate assembly of multiple RNA-seq samples with Aletsch58
3DICE: interpretable 3D cross-modal learning for drug–target interaction prediction and large-scale drug discovery55
ProMeta: a meta-learning framework for robust disease diagnosis and prediction from plasma proteomics54
NPBIP: predicting binding preferences of uncharacterized nucleic-acid-binding proteins53
Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data53
DirectASRM: uncovering allele-specific post-transcriptional RNA modifications through direct RNA sequencing50
EvoAug-TF: extending evolution-inspired data augmentations for genomic deep learning to TensorFlow49
Refining sequence-to-expression modelling with chromatin accessibility49
The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants46
Group-walk: a rigorous approach to group-wise false discovery rate analysis by target-decoy competition46
CompareM2 is a genomes-to-report pipeline for comparing microbial genomes46
CANTATA—prediction of missing links in Boolean networks using genetic programming45
Harnessing deep learning for proteome-scale detection of amyloid signaling motifs45
ADViSELipidomics: a workflow for analyzing lipidomics data44
skandiver: a divergence-based analysis tool for identifying intercellular mobile genetic elements44
FastSCODE: an accelerated SCODE algorithm for inferring gene regulatory networks on manycore processors44
SA2E: spatial-aware auto-encoder for cell type deconvolution of spatial transcriptomics data43
TripLexicon: prediction and analysis of gene regulatory RNA–DNA interactions43
phylobar: an R package for multiresolution compositional barplots in omics studies43
scSurv: a deep generative model for single-cell survival analysis42
insilicoSV: a flexible grammar-based framework for structural variant simulation and placement42
Floria: fast and accurate strain haplotyping in metagenomes39
Decomposing mosaic tandem repeats accurately from long reads39
AFragmenter: schema-free, tuneable protein domain segmentation for AlphaFold protein structures39
A novel method for across-chromosome phasing without relative data38
StrucPTM: a database of structurally validated protein modifications and their conformational variation38
Finding low-complexity DNA sequences with longdust35
Fragmentstein—facilitating data reuse for cell-free DNA fragment analysis35
LCR-modules: a collection of workflows for cancer genome analysis34
Network methods for diagonal integration of unpaired single-cell multiomics data: a review34
WMDS.net: a network control framework for identifying key players in transcriptome programs33
Perceiver CPI: a nested cross-attention network for compound–protein interaction prediction32
GT-Mamba: a Topology-Aware Graph-State space model for robust and interpretable epigenetic age prediction32
Inference of 3D genome architecture by modeling overdispersion of Hi-C data32
The 2026 ISCB Overton Prize Award—Dr Marinka Zitnik31
DeepSynBa: actionable drug combination prediction with complete dose-response profiles31
R4ST: a reference-guided graph-generative model for robust reconstruction of spatial transcriptomic profiles31
Evidential meta-model for molecular property prediction31
MPBind: a multitask protein binding site predictor using protein language models and equivariant GNNs30
DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome30
Deep Local Analysis deconstructs protein–protein interfaces and accurately estimates binding affinity changes upon mutation30
Aclust2.0: a revamped unsupervised R tool for Infinium methylation beadchips data analyses30
MICER: a pre-trained encoder–decoder architecture for molecular image captioning30
SegJointGene: joint cell segmentation and spatial gene prioritization by information entropy guided convolutional neural networks30
The FASTQ+ format and PISA30
Oarfish: enhanced probabilistic modeling leads to improved accuracy in long read transcriptome quantification29
From high-throughput evaluation to wet-lab studies: advancing mutation effect prediction with a retrieval-enhanced model29
GraphyloVar: predicting the impact of non-coding variants using a multi-species sequence model28
Robust prioritization of genomic features with stability selection28
ShortCake: an integrated platform for efficient and reproducible single-cell analysis28
VirBinn improves viral genome binning from metagenomic Hi-C through graph diffusion28
A survey of models composed of graph neural networks and large language models for molecular science28
BrainConnect: processing brain connectivity and spatial transcriptomics data for integrative analysis27
Prediction of gene co-expression from chromatin contacts with graph attention network27
Delineating inter- and intra-antibody repertoire evolution with AntibodyForests27
EXPLANA: a user-friendly workflow for EXPLoratory ANAlysis and feature selection in cross-sectional and longitudinal microbiome studies27
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines27
STAR-GO: improving protein function prediction by learning to hierarchically integrate ontology-informed semantic embeddings27
Estimating sparse regression models in multi-task learning and transfer learning through adaptive penalisation26
Singletrack: an algorithm for improving memory consumption and performance of gap-affine sequence alignment26
RAREsim2: flexible simulation of rare variant genetic data using real haplotypes26
VDJ-Insights: simplifying the annotation of genomic immunoglobulin and T cell receptor regions26
Columba: fast approximate pattern matching with optimized search schemes26
SpaBiT: enhancing spatial transcriptomics resolution via bidirectional attention transformers25
Transfer learning for drug–target interaction prediction25
Control-guided refinement of partially specified Boolean networks: applications to RTK signaling25
Prediction and curation of missing biomedical identifier mappings with Biomappings25
Functional lipid analysis via index-based lipidomics profile: a new computational module in LipidOne25
CryoPromptSeg: prompt-guided segmentation with integrated denoising for cryo-EM particle picking25
Enhancing cross-context generalization in drug perturbation prediction with a multimodal conditional diffusion framework25
hipFG: high-throughput harmonization and integration pipeline for functional genomics data25
SEMPLR: an R package for transcription factor binding prediction25
CProMG: controllable protein-oriented molecule generation with desired binding affinity and drug-like properties24
Adaptive digital tissue deconvolution24
CFAGO: cross-fusion of network and attributes based on attention mechanism for protein function prediction24
Omnibus and robust deconvolution scheme for bulk RNA sequencing data integrating multiple single-cell reference sets and prior biological knowledge24
Deciphering high-order structures in spatial transcriptomes with graph-guided Tucker decomposition24
Correction of image distortion in large-field ssEM stitching by an unsupervised intermediate-space solving network24
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning24
Dogme: a nextflow pipeline for reprocessing nanopore RNA and DNA modifications23
mHapTk: a comprehensive toolkit for the analysis of DNA methylation haplotypes23
Prediction of bacterial protein–compound interactions with only positive samples23
Using semantic search to find publicly available gene-expression datasets23
Microbench: automated metadata management for systems biology benchmarking and reproducibility in Python23
Correction to: Enhancing interpretation of clinical disease-associated copy number variations from multiple sequencing strategies with CNVSeeker23
LimROTS: a hybrid method integrating empirical Bayes and reproducibility-optimized statistics for robust differential expression analysis23
SL-Miner: a web server for mining evidence and prioritization of cancer-specific synthetic lethality23
Graph-theoretical prediction of biological modules in quaternary structures of large protein complexes23
SpecieScan: semi-automated taxonomic identification of bone collagen peptides from MALDI-ToF-MS23
PULPO: pipeline of understanding large-scale patterns of oncogenomic signatures22
VIJB: a companion of the JBROWSE genome browser for the visually impaired people22
AdenPredictor: accurate prediction of the adenylation domain specificity of nonribosomal peptide biosynthetic gene clusters in microbial genomes22
The cell as a token: high-dimensional geometry in language models and cell embeddings22
Cell type matching across species using protein embeddings and transfer learning22
Movi 2: fast and space-efficient queries on pangenomes22
Single-cell mutation calling and phylogenetic tree reconstruction with loss and recurrence22
Improving biomedical entity linking with generative relevance feedback22
PiLSL: pairwise interaction learning-based graph neural network for synthetic lethality prediction in human cancers22
Protein–nucleic acid binding site prediction using interpretable Kolmogorov–Arnold networks with hypergraph representation learning21
Phlag: scalable detection of genomics regions with unexplained phylogenetic heterogeneity21
Accessible, uniform protein property prediction with a scikit-learn based toolset AIDE21
Geometry-complete perceptron networks for 3D molecular graphs21
PractiCPP: a deep learning approach tailored for extremely imbalanced datasets in cell-penetrating peptide prediction21
A physics-informed neural SDE network for learning cellular dynamics from time-series scRNA-seq data21
Deciphering key factors of active learning performance in biomolecular design21
Mining literature and pathway data to explore the relations of ketamine with neurotransmitters and gut microbiota using a knowledge-graph21
NEFFy: a versatile tool for computing the number of effective sequences20
BAV-LLPS: a database of bacterial, archaea, and virus liquid–liquid phase separation proteins20
ECCB2022: the 21st European Conference on Computational Biology20
Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach20
Conformal inference for reliable single cell RNA-seq annotation20
scGrapHiC: deep learning-based graph deconvolution for Hi-C using single cell gene expression20
RNA threading with secondary structure and sequence profile20
Duplex-Indel: a Snakemake pipeline for somatic Indel calling in Tn5 transposase-based duplex sequencing data19
Modified RNAs and predictions with the ViennaRNA Package19
DeepLMI: deep feature mining with a globally enhanced graph convolutional network for robust lncRNA–miRNA interaction prediction19
2023 ISCB Overton Prize: Jingyi Jessica Li19
Conumee 2.0: enhanced copy-number variation analysis from DNA methylation arrays for humans and mice19
The 2024 ISCB Overton Prize Award—Dr Martin Steinegger19
treestructure: an R package to detect population structure in phylogenetic trees19
Generating synthetic genotypes using diffusion models19
nf-core/viralmetagenome: A novel pipeline for untargeted viral genome reconstruction19
TaxTriage: an open-source metagenomic sequencing data analysis pipeline enabling putative pathogen detection19
statgenMPP: an R package implementing an IBD-based mixed model approach for QTL mapping in a wide range of multi-parent populations19
PU-GRAIL: residue-level graph learning for identifying protective bacterial antigens under positive-unlabeled supervision18
Phenotype prediction from single-cell RNA-seq data using attention-based neural networks18
Drug response profile-based machine learning enables strategic cell line and compound selection for drug development18
StructuralDPPIV: a novel deep learning model based on atom structure for predicting dipeptidyl peptidase-IV inhibitory peptides18
Forseti : a mechanistic and predictive model of the splicing status of scRNA-seq reads18
SpatialRNA: a Python package for easy application of Graph Neural Network models on single-molecule spatial transcriptomics dataset18
Semi-supervised data-integrated feature importance enhances performance and interpretability of biological classification tasks18
MSNet-4mC: learning effective multi-scale representations for identifying DNA N4-methylcytosine sites18
Multistage attention-based extraction and fusion of protein sequence and structural features for protein function prediction18
Bridging ancestry gaps in genomic risk prediction with tabular foundation models18
Predicting gene-specific regulation with transcriptomic and epigenetic single-cell data18
scHiCPTR: unsupervised pseudotime inference through dual graph refinement for single-cell Hi-C data18
HAMPLE: deciphering TF-DNA binding mechanism in different cellular environments by characterizing higher-order nucleotide dependency18
Galaxy Helm chart: a standardized method for deploying production Galaxy servers18
Improving dictionary-based named entity recognition with deep learning18
Scbean: a python library for single-cell multi-omics data analysis18
The 2025 ISCB Overton Prize Award—Dr James Zou18
HyperSeg-DG: multi-scale hyper feature context for domain-generalized medical image segmentation18
CCC-GPU: a graphics processing unit (GPU)-accelerated nonlinear correlation coefficient for large-scale transcriptomic analyses18
INDIGENA: inductive prediction of disease–gene associations using phenotype ontologies18
PEStimate : predicting offspring disease risk after polygenic embryo screening18
IMPACT: interpretable microbial phenotype analysis via microbial characteristic traits17
LoRA-DR-suite: adapted embeddings predict intrinsic and soft disorder from protein sequences17
Foreign RNA spike-ins enable accurate allele-specific expression analysis at scale17
AHoJ: rapid, tailored search and retrieval of apo and holo protein structures for user-defined ligands17
FishFeats: streamlined quantification of multimodal labeling at the single-cell level in 3D tissues17
Powerful and interpretable control of false discoveries in two-group differential expression studies17
Managing workflow executions with WESkit17
Polyphest: fast polyploid phylogeny estimation17
CellAnn: a comprehensive, super-fast, and user-friendly single-cell annotation web server16
Integrating curation into scientific publishing to train AI models16
Integrating plant phenotypic and genotypic data in the AGENT project: a BrAPI service implementation16
MegaPX: fast and space-efficient peptide assignment method using IBF-based multi-indexing16
Joint inference of cell lineage and mitochondrial evolution from single-cell sequencing data16
Learning drug synergy through environment-conditioned feature modulation16
TSEDTA: a transformer-based neural network with SMILES transformer and ESM2 embeddings for drug-target binding affinity prediction16
mmContext: an open framework for multimodal contrastive learning of omics and text data16
Determining epitope specificity of T-cell receptors with transformers16
MixingDTA: improved drug–target affinity prediction by extending mixup with guilt-by-association16
ARTEMIS integrates autoencoders and Schrödinger Bridges to predict continuous dynamics of gene expression, cell population, and perturbation from time-series single-cell data16
Prevalence aware feature selection improves biomarker identification in microbiome studies16
dsMTL: a computational framework for privacy-preserving, distributed multi-task machine learning16
A unified mediation analysis framework for integrative cancer proteogenomics with clinical outcomes15
CAMUS: scalable phylogenetic network estimation15
Position-Specific Enrichment Ratio Matrix scores predict antibody variant properties from deep sequencing data15
Expanding the coverage of spatial proteomics: a machine learning approach15
RAmpSim: a thermodynamic simulator for hybridization capture in metagenomic sequencing15
Benchmarking AI scientists for omics data–driven biological discovery15
The 2026 ISCB Outstanding Service Award—Dr Philip E. Bourne15
Optimal phylogenetic reconstruction of insertion and deletion events15
A novel pipeline for computerized mouse spermatogenesis staging15
CATH-ddG: towards robust mutation effect prediction on protein–protein interactions out of CATH homologous superfamily15
Balancing complexity and clarity—towards clinician-ready antibiotic resistance prediction models15
DeepProtein: deep learning library and benchmark for protein sequence learning15
ConceptDrift: leveraging spatial, temporal and semantic evolution of biomedical concepts for hypothesis generation15
CMAtlas: a comprehensive DNA methylation atlas for exploring epigenetic alterations in 34 human cancer types14
Somatic mutation effects diffused over microRNA dysregulation14
ViTAL: Vision TrAnsformer based Low coverage SARS-CoV-2 lineage assignment14
Accurate SPARQL generation via in-context learning and schema-based query construction14
CIBRA identifies genomic alterations with a system-wide impact on tumor biology14
RISK: a next-generation tool for biological network annotation and visualization14
REUNION: transcription factor binding prediction and regulatory association inference from single-cell multi-omics data14
sedimix : a workflow for the analysis of hominin nuclear DNA sequences from sediments14
Phylogenetic diversity statistics for all clades in a phylogeny14
CODEX: COunterfactual Deep learning for the in silico EXploration of cancer cell line perturbations14
SimBu : bias-aware simulation of bulk RNA-seq data with variable cell-type composition13
RiboGraph: an interactive visualization system for ribosome profiling data at read length resolution13
Hotgenes: an R package for reducing bottlenecks in bulk omics data exploration and collaboration13
ADAMIXTURE: adaptive first-order optimization for biobank-scale genetic clustering13
A penalized linear mixed model with generalized method of moments estimators for complex phenotype prediction13
Trimmomatic: a decade of feature-rich, high-performance NGS read preprocessing13
Bayesian inference of fitness landscapes via tree-structured branching processes13
GLiNER-BioMed: a suite of efficient models for open biomedical named entity recognition13
Pycallingcards: an integrated environment for visualizing, analyzing, and interpreting Calling Cards data13
Semantic-enhanced heterogeneous graph learning for identifying ncRNAs associated with drug resistance13
Predicted structural proteome of Sphagnum divinum and proteome-scale annotation13
DDAffinity: predicting the changes in binding affinity of multiple point mutations using protein 3D structure13
3D Optical Coherence Tomography image processing in BISCAP: characterization of biofilm structure and properties13
BioNeuralNet: a graph neural network based Multi-Omics network data analysis tool13
NFTest: automated testing of Nextflow pipelines13
Graph attention network for link prediction of gene regulations from single-cell RNA-sequencing data13
3D GAN image synthesis and dataset quality assessment for bacterial biofilm13
Optimal sequencing budget allocation for trajectory reconstruction of single cells13
AttentionPert: accurately modeling multiplexed genetic perturbations with multi-scale effects13
Inferring and evaluating network medicine-based disease modules with nextflow12
Efficient algorithms for simulating sequences along a phylogenetic tree12
TARO: tree-aggregated factor regression for microbiome data integration12
GASTON-Mix: a unified model of spatial gradients and domains using spatial mixture-of-experts12
CPS: mapping physical coordinates to high-fidelity spatial transcriptomics via privileged multi-scale context distillation12
A deep learning framework for comprehensive prediction of human RNA G-quadruplex-binding proteins12
PlasmoFAB: a benchmark to foster machine learning for Plasmodium falciparum protein antigen candidate prediction12
Atomic protein structure refinement using all-atom graph representations and SE(3)-equivariant graph transformer12
PERSEUS: an interactive and intuitive web-based tool for pedigree visualization12
Manifold classification of neuron types from microscopic images12
G4STAB: a multi-input deep learning model to predict G-quadruplex thermodynamic stability based on sequence and salt concentration12
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