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(I001) A Novel cfDNA Amplification Calling Methodology Utilizing Tumor Fraction and Gene Specific Cut-Offs
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(I002) Complement: Automated ISCN Karyotyping from Long-Read Sequencing
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(I003) A robust method to estimate chromosomal instability (CIN) in MSK-IMPACT data
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(I004) Development of an End-to-End Automated Bioinformatics Pipeline for UT Health San Antonio Heme Oncor NGS Assay with SNV, Small Indel, FLT3 ITD and Oncogenic Virus Detection
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(I005) An Innovative Computational Algorithm for Assessing Cellular Origin, Clonality, and Tumor Zygosity of Short-Variants Identified in Clinical Biopsy Samples
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(I006) pVACtools: An Open-Source Informatics Suite for Comprehensive Neoantigen Characterization and Immunotherapy Design
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(I007) AutoDBValidator: An Efficient Solution for Systematic and Automated Validation of Genomic Variant Database Upgrades
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(I008) Automated Inflammation Assessment Using Digital Pathology Foundation Models For Use In A Molecular Laboratory
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(I009) Automated OncoTree Coding of Surgical Pathology Reports for Molecular Pathology Correlation via a Local RAG-LLM Pipeline
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(I010) Characterizing alterations via NGS in difficult to map genes
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(I011) Clinically Actionable Protein Expression Biomarkers for FDA-Approved Precision Oncology Therapies
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(I012) Comprehensive & Precise Structural Variant Detection With a Single Assay
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(I013) Development of NGS Fingerprint Analysis (NGSFA) for the Molecular Diagnostic Laboratory
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(I014) Establishing Custom Bioinformatics Pipeline for Comprehensive Detection of Cytomegalovirus (CMV) Drug Resistance Mutations
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(I015) Exploider: An Integrated Algorithm for Large-Scale Copy Number Alteration Detection in Whole-exome sequencing data
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(I016) High-Resolution Detection of Copy Number Alterations in Clinical Solid Tumor Samples Using Targeted Next Generation Sequencing
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(I017) Illumina Connected Insights: Evaluation of Accuracy of Automated Variant Interpretation Using Oncology Guidelines (ClinGen/CGC/VICC and AMP/ASCO/CAP) and PrimateAI-3D
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(I018) Improved algorithms for optical genome mapping workflows in constitutional disease and oncology applications
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(I019) Improved Indel and Tandem Duplication Detection in a DNA-based Anchored Multiplex PCR Next Generation Sequencing Panel for Clinical Oncology by Integrated Paired-End and Split-Read Analysis with DELLY
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(I020) Integrating RNA and DNA Analysis to Enhance Detection, Annotation, and Interpretation of Somatic Variants and Active Driver Mutations in Tumors
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(I022) Killing the Biopsy Twice: From Pixels to Mutational Profiles Evaluating Histiomics Frameworks to Infer Genomic and Transcriptomic Profiles in Solid tumors
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(I023) Leveraging Global Data Standards and Infrastructure Improvements to Improve Clinical Variant Classification Operations
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(I024) Leveraging RNA Splicing Analysis to Detect Actionable Oncogenic Events in MSK-TARGET data
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(I025) Tumor-NAT Explorer: A User-Friendly Deep Learning Pipeline for ROI Selection from H&E Whole-Slide Images in Clinical Research
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(I026) Using variant effect predictors calibrated for clinical classification in OpenCRAVAT and CIViC
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(I027) Validation of the 500-gene GOAL Panel Using Cloud-enabled Bioinformatics Pipeline for Clinical Use
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(I028) VannoAI: AI-Augmented Variant Annotation and Reporting: An Open-Access, Scalable Framework for NGS Interpretation in Resource-Constrained Settings
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(I029) TOPPings: A Web-Based Platform to Accelerate Case Review and Reporting for a Solid Tumor NGS Panel
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(I030) Sendout Scribe: Automated, Open Sourced, Data Normalization from Molecular Genetics PDFs with Multi-Model Validation
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(I031) Genetic Characteristics and Survival Outcomes between Different Ethnicities with Colon Adenocarcinoma
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(I032) SeqForge: A Comprehensive Short and Long Read Generator, Variant Validator, Spike-In Tool, and Mutational Signature Emulator
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(I033) A Secure AI Assistant Combining Large Language Models with Retrieval-Augmented Generation for Clinical Laboratory Documentation Interpretation and Management
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(I034) Targeting Metabolic Signatures of Tumor-Associated Macrophages in High-Grade Brain Tumor.
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(I035) A Machine-Learning Model Predicts Phenotypic Antibiotic Susceptibility with High Accuracy Using PCR Results and Demographic Information for UTI Patients
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(I036) Gene-Contribution–Interpretable XGBoost Outperforms Deep-Learning and Conventional Models in Predicting Primary Tumor Site from 1,352 In-House NGS Panels
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(I037) A universal platform for cancer diagnostics leveraging AI-based RNA-Seq analysis
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(I038) Accelerating curation of CRISPR Screen Data from public repositories
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(I039) Deep learning–driven probe design for hybrid-capture NGS panels enables even and specific target enrichment
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(I040) Detecting Contamination in Cell-free DNA Sequencing Libraries using Germline Markers
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(I041) Development and Evaluation of a Pathogenicity Prediction AI for Clinical Application: An Empirical Study Using ClinVar
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(I042) Integrative Transcriptomic Classifier for Tissue-of-Origin Prediction Using GTEx and TCGA: Toward Scalable Molecular Decision Support in Oncology
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(I043) Interpretable Multi-Omics Classifier for MET Overexpression in Clear Cell Renal Cell Carcinoma Using SHAP Explanations
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(I045) Multi-Analytical Integration of Public RNA-seq Data Reveals Blood-Based Sepsis Severity Biomarkers for Predictive Modeling
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(I046) Reducing Inappropriate BCR::ABL1 Test Orders Through EMR-Integrated Clinical Decision Support and Standardized Order Panels
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(I047) Multimodal AI for Pathogenic Variant Prioritization and Histologic Classification in CNS Cancers
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(I048) ARTI: An open-source tool for Annotation, Rules and Tiering, and Interpretation of Genetic Variants
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(I049) Multimodal AI Agent Framework for Integrative Pharmacology and Toxicology Evaluation
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(I050) Establishing data-driven variant allele frequency cut-off of ASXL1 p.G646fs in an amplicon-based next generation sequencing for myeloid neoplasms
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