| 1 | Self-supervised learning on millions of primary RNA sequences from 72 vertebrates improves sequence-based RNA splicing prediction | 6.6 | 66 | Citations (PDF) |
| 2 | Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting | 2.9 | 2 | Citations (PDF) |
| 3 | Deciphering cell types by integrating scATAC-seq data with genome sequences | 11.6 | 28 | Citations (PDF) |
| 4 | VCAT: an integrated variant function annotation tools | 2.9 | 0 | Citations (PDF) |
| 5 | Enhanced soluble expression and characterization of human N-acetylglucosaminyltransferase IVa in Escherichia coli | 3.6 | 1 | Citations (PDF) |
| 6 | Fast and accurate protein intrinsic disorder prediction by using a pretrained language model | 6.6 | 20 | Citations (PDF) |
| 7 | Capturing large genomic contexts for accurately predicting enhancer-promoter interactions | 6.6 | 32 | Citations (PDF) |
| 8 | Cardiac ISL1-Interacting Protein, a Cardioprotective Factor, Inhibits the Transition From Cardiac Hypertrophy to Heart Failure | 2.4 | 4 | Citations (PDF) |
| 9 | Molecular Correlates of Venous Thromboembolism (VTE) in Ovarian Cancer | 3.8 | 23 | Citations (PDF) |
| 10 | Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections | 2.9 | 1 | Citations (PDF) |
| 11 | Ab initio spillover compensation in mass cytometry data | 2.5 | 19 | Citations (PDF) |
| 12 | Targeting a cytokine checkpoint enhances the fitness of armored cord blood CAR-NK cellsBlood, 2021, 137, 624-636 | 5.0 | 276 | Citations (PDF) |
| 13 | Sparse Subspace Clustering for Stream Data | 3.0 | 4 | Citations (PDF) |
| 14 | GMP-Compliant Universal Antigen Presenting Cells (uAPC) Promote the Metabolic Fitness and Antitumor Activity of Armored Cord Blood CAR-NK Cells | 4.9 | 50 | Citations (PDF) |
| 15 | MEDALT: single-cell copy number lineage tracing enabling gene discovery | 8.1 | 39 | Citations (PDF) |
| 16 | Single-cell RNA-seq analysis reveals compartment-specific heterogeneity and plasticity of microglia | 3.5 | 58 | Citations (PDF) |
| 17 | Spatially interacting phosphorylation sites and mutations in cancer | 13.7 | 20 | Citations (PDF) |
| 18 | Response to Hypomethylating Agents in Myelodysplastic Syndrome Is Associated With Emergence of Novel TCR Clonotypes | 4.9 | 17 | Citations (PDF) |
| 19 | Extended live-cell barcoding approach for multiplexed mass cytometry | 3.4 | 21 | Citations (PDF) |
| 20 | Identification of Novel Single-Nucleotide Variants With Potential of Mediating Malfunction of MicroRNA in Congenital Heart Disease | 2.4 | 5 | Citations (PDF) |
| 21 | Delineating copy number and clonal substructure in human tumors from single-cell transcriptomes | 29.8 | 822 | Citations (PDF) |
| 22 | Single-cell dissection of intratumoral heterogeneity and lineage diversity in metastatic gastric adenocarcinoma | 33.0 | 246 | Citations (PDF) |
| 23 | Dynamic Spatio-Temporal Graph-Based CNNs for Traffic Flow Prediction | 3.0 | 76 | Citations (PDF) |
| 24 | Sex differences in oncogenic mutational processes | 13.7 | 94 | Citations (PDF) |
| 25 | A robust benchmark for detection of germline large deletions and insertions | 29.8 | 404 | Citations (PDF) |
| 26 | Latent periodic process inference from single-cell RNA-seq data | 13.7 | 55 | Citations (PDF) |
| 27 | Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer’s disease in genes and isoforms | 2.9 | 20 | Citations (PDF) |
| 28 | Hybrid oncocytic/chromophobe renal tumors are molecularly distinct from oncocytoma and chromophobe renal cell carcinoma | 4.8 | 50 | Citations (PDF) |
| 29 | SiCloneFit: Bayesian inference of population structure, genotype, and phylogeny of tumor clones from single-cell genome sequencing data | 4.6 | 121 | Citations (PDF) |
| 30 | Elevated Endogenous SDHA Drives Pathological Metabolism in Highly Metastatic Uveal Melanoma 2019, 60, 4187 | | 51 | Citations (PDF) |
| 31 | SCMarker: Ab initio marker selection for single cell transcriptome profiling | 3.1 | 39 | Citations (PDF) |
| 32 | Dynamic clonal remodelling in breast cancer metastases is associated with subtype conversion | 4.9 | 20 | Citations (PDF) |
| 33 | Sequential Therapy with PARP and WEE1 Inhibitors Minimizes Toxicity while Maintaining Efficacy | 33.0 | 212 | Citations (PDF) |
| 34 | Multi-platform discovery of haplotype-resolved structural variation in human genomes | 13.7 | 841 | Citations (PDF) |
| 35 | Comparison of different functional prediction scores using a gene-based permutation model for identifying cancer driver genes | 1.7 | 12 | Citations (PDF) |
| 36 | Integrated transcriptomic–genomic tool Texomer profiles cancer tissues | 24.6 | 12 | Citations (PDF) |
| 37 | Prospective Clinical Sequencing of Adult Glioma | 1.9 | 18 | Citations (PDF) |
| 38 | Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2Cell, 2019, 176, 1310-1324.e10 | 33.6 | 91 | Citations (PDF) |
| 39 | A novel immature natural killer cell subpopulation predicts relapse after cord blood transplantation | 5.0 | 34 | Citations (PDF) |
| 40 | Identifying Common Genes, Cell Types and Brain Regions Between Diseases of the Nervous System | 2.3 | 6 | Citations (PDF) |
| 41 | Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling | 13.7 | 128 | Citations (PDF) |
| 42 | Distinct Biological Types of Ocular Adnexal Sebaceous Carcinoma: HPV-Driven and Virus-Negative Tumors Arise through Nonoverlapping Molecular-Genetic Alterations | 6.8 | 55 | Citations (PDF) |
| 43 | Comprehensive Characterization of Cancer Driver Genes and MutationsCell, 2018, 173, 371-385.e18 | 33.6 | 2,151 | Citations (PDF) |
| 44 | Pathogenic Germline Variants in 10,389 Adult CancersCell, 2018, 173, 355-370.e14 | 33.6 | 829 | Citations (PDF) |
| 45 | Driver Fusions and Their Implications in the Development and Treatment of Human Cancers | 6.3 | 588 | Citations (PDF) |
| 46 | The Immune Landscape of Cancer | 22.6 | 5,185 | Citations (PDF) |
| 47 | Systematic Analysis of Splice-Site-Creating Mutations in Cancer | 6.3 | 234 | Citations (PDF) |
| 48 | Untying the gordion knot of targeting MET in cancer | 9.5 | 22 | Citations (PDF) |
| 49 | Systematic Functional Annotation of Somatic Mutations in Cancer | 33.0 | 316 | Citations (PDF) |
| 50 | Variants with a low allele frequency detected in genomic DNA affect the accuracy of mutation detection in cell‐free DNA by next‐generation sequencing | 4.0 | 13 | Citations (PDF) |
| 51 | Computational approaches for inferring tumor evolution from single-cell genomic data | 1.4 | 42 | Citations (PDF) |
| 52 | Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection | 8.1 | 50 | Citations (PDF) |
| 53 | Hypervirulent group A Streptococcus emergence in an acaspular background is associated with marked remodeling of the bacterial cell surface | 2.3 | 13 | Citations (PDF) |
| 54 | Genetic biomarkers of sensitivity and resistance to venetoclax monotherapy in patients with relapsed acute myeloid leukemia | 6.5 | 138 | Citations (PDF) |
| 55 | In vivo screening identifies GATAD2B as a metastasis driver in KRAS-driven lung cancer | 13.7 | 45 | Citations (PDF) |
| 56 | Metachronous Medulloblastoma in a Child With Successfully Treated Neuroblastoma: Case Report and Novel Findings of DNA Sequencing | 12.6 | 3 | Citations (PDF) |
| 57 | Cancer driver mutation prediction through Bayesian integration of multi-omic data | 2.3 | 26 | Citations (PDF) |
| 58 | HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies | 4.6 | 33 | Citations (PDF) |
| 59 | An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentCell, 2017, 168, 830-842.e7 | 33.6 | 112 | Citations (PDF) |
| 60 | GenomeVIP: a cloud platform for genomic variant discovery and interpretation | 4.6 | 18 | Citations (PDF) |
| 61 | Ph-like acute lymphoblastic leukemia: a high-risk subtype in adultsBlood, 2017, 129, 572-581 | 5.0 | 363 | Citations (PDF) |
| 62 | A Population of Heterogeneous Breast Cancer Patient-Derived Xenografts Demonstrate Broad Activity of PARP Inhibitor in BRCA1/2 Wild-Type Tumors | 6.8 | 66 | Citations (PDF) |
| 63 | Sarcomatoid Renal Cell Carcinoma Has a Distinct Molecular Pathogenesis, Driver Mutation Profile, and Transcriptional Landscape | 6.8 | 89 | Citations (PDF) |
| 64 | Comprehensive Genomic Profiling of Metastatic Squamous Cell Carcinoma of the Anal Canal | 3.1 | 73 | Citations (PDF) |
| 65 | Active Disclosure of Secondary Germline Findings to Deceased Research Participants’ Personal Representatives: Process and Outcomes | 1.9 | 4 | Citations (PDF) |
| 66 | SiFit: inferring tumor trees from single-cell sequencing data under finite-sites models | 8.1 | 184 | Citations (PDF) |
| 67 | BreakPoint Surveyor: a pipeline for structural variant visualization | 4.7 | 5 | Citations (PDF) |
| 68 | Hotspot mutations delineating diverse mutational signatures and biological utilities across cancer types | 3.2 | 33 | Citations (PDF) |
| 69 | Divergent viral presentation among human tumors and adjacent normal tissues | 3.4 | 67 | Citations (PDF) |
| 70 | Monovar: single-nucleotide variant detection in single cells | 24.6 | 177 | Citations (PDF) |
| 71 | Novel algorithmic approach predicts tumor mutation load and correlates with immunotherapy clinical outcomes using a defined gene mutation set | 7.1 | 111 | Citations (PDF) |
| 72 | Functional annotation of rare gene aberration drivers of pancreatic cancer | 13.7 | 84 | Citations (PDF) |
| 73 | novoBreak: local assembly for breakpoint detection in cancer genomes | 24.6 | 107 | Citations (PDF) |
| 74 | ClinSeK: a targeted variant characterization framework for clinical sequencing | 9.6 | 13 | Citations (PDF) |
| 75 | Genome Modeling System: A Knowledge Management Platform for Genomics | 3.1 | 87 | Citations (PDF) |
| 76 | Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms | 13.7 | 94 | Citations (PDF) |
| 77 | Identification of Variant-Specific Functions of
PIK3CA
by Rapid Phenotyping of Rare Mutations | 3.8 | 160 | Citations (PDF) |
| 78 | Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer | 8.6 | 89 | Citations (PDF) |
| 79 | RET Fusion as a Novel Driver of Medullary Thyroid Carcinoma | 4.0 | 78 | Citations (PDF) |
| 80 | Clinical Actionability Enhanced through Deep Targeted Sequencing of Solid Tumors | 1.1 | 91 | Citations (PDF) |
| 81 | Ploidy-Seq: inferring mutational chronology by sequencing polyploid tumor subpopulations | 9.6 | 6 | Citations (PDF) |
| 82 | A Decision Support Framework for Genomically Informed Investigational Cancer Therapy | 4.6 | 189 | Citations (PDF) |
| 83 | An integrated map of structural variation in 2,504 human genomes | 37.9 | 2,437 | Citations (PDF) |
| 84 | TransVar: a multilevel variant annotator for precision genomics | 24.6 | 98 | Citations (PDF) |
| 85 | Characterization of twenty-five ovarian tumour cell lines that phenocopy primary tumours | 13.7 | 178 | Citations (PDF) |
| 86 | Ability to Generate Patient-Derived Breast Cancer Xenografts Is Enhanced in Chemoresistant Disease and Predicts Poor Patient Outcomes | 2.3 | 66 | Citations (PDF) |
| 87 | Towards accurate characterization of clonal heterogeneity based on structural variation | 3.0 | 10 | Citations (PDF) |
| 88 | TIGRA: A targeted iterative graph routing assembler for breakpoint assembly | 4.6 | 90 | Citations (PDF) |
| 89 | BreakDancer: Identification of Genomic Structural Variation from Paired‐End Read Mapping | 3.3 | 156 | Citations (PDF) |
| 90 | Bias from removing read duplication in ultra-deep sequencing experiments | 4.7 | 46 | Citations (PDF) |
| 91 | Clonal evolution in breast cancer revealed by single nucleus genome sequencing | 37.9 | 1,010 | Citations (PDF) |
| 92 | Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia | 34.5 | 4,867 | Citations (PDF) |
| 93 | A survey of intragenic breakpoints in glioblastoma identifies a distinct subset associated with poor survival | 4.6 | 83 | Citations (PDF) |
| 94 | CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features | 2.3 | 117 | Citations (PDF) |
| 95 | SomaticSniper: identification of somatic point mutations in whole genome sequencing data | 4.7 | 656 | Citations (PDF) |
| 96 | BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data | 4.7 | 57 | Citations (PDF) |
| 97 | Background Mutations in Parental Cells Account for Most of the Genetic Heterogeneity of Induced Pluripotent Stem Cells | 16.4 | 206 | Citations (PDF) |
| 98 | Whole-genome analysis informs breast cancer response to aromatase inhibition | 37.9 | 993 | Citations (PDF) |
| 99 | Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-SmokersCell, 2012, 150, 1121-1134 | 33.6 | 1,117 | Citations (PDF) |
| 100 | Clonal Architecture of Secondary Acute Myeloid Leukemia | 34.5 | 736 | Citations (PDF) |
| 101 | Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing | 37.9 | 1,931 | Citations (PDF) |
| 102 | The Origin and Evolution of Mutations in Acute Myeloid Leukemia | 33.6 | 1,506 | Citations (PDF) |
| 103 | CREST maps somatic structural variation in cancer genomes with base-pair resolution | 24.6 | 476 | Citations (PDF) |
| 104 | Mapping copy number variation by population-scale genome sequencing | 37.9 | 1,078 | Citations (PDF) |
| 105 | Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene | 16.5 | 239 | Citations (PDF) |
| 106 | Identification of a Novel <emph type="ital">TP53</emph> Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML | 16.5 | 150 | Citations (PDF) |
| 107 | Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression | 10.6 | 91 | Citations (PDF) |
| 108 | Genome remodelling in a basal-like breast cancer metastasis and xenograft | 37.9 | 1,114 | Citations (PDF) |
| 109 | CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data | 4.7 | 60 | Citations (PDF) |
| 110 | VarScan: variant detection in massively parallel sequencing of individual and pooled samples | 4.7 | 1,372 | Citations (PDF) |
| 111 | BreakDancer: an algorithm for high-resolution mapping of genomic structural variation | 24.6 | 1,464 | Citations (PDF) |
| 112 | Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome | 34.5 | 2,139 | Citations (PDF) |
| 113 | Somatic mutations affect key pathways in lung adenocarcinoma | 37.9 | 2,801 | Citations (PDF) |
| 114 | DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome | 37.9 | 1,342 | Citations (PDF) |
| 115 | PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data | 4.6 | 77 | Citations (PDF) |
| 116 | On the detection of functionally coherent groups of protein domains with an extension to protein annotation | 3.0 | 6 | Citations (PDF) |
| 117 | Prediction of Binding Affinities between the Human Amphiphysin-1 SH3 Domain and Its Peptide Ligands Using Homology Modeling, Molecular Dynamics and Molecular Field Analysis | 3.4 | 73 | Citations (PDF) |
| 118 | Computational Analysis and Prediction of the Binding Motif and Protein Interacting Partners of the Abl SH3 Domain | 3.1 | 158 | Citations (PDF) |
| 119 | Simultaneous recognition of words and prosody in the Boston University Radio Speech Corpus | 2.1 | 36 | Citations (PDF) |