Informatics

(I001) A Novel cfDNA Amplification Calling Methodology Utilizing Tumor Fraction and Gene Specific Cut-Offs

(I002) Complement: Automated ISCN Karyotyping from Long-Read Sequencing

(I003) A robust method to estimate chromosomal instability (CIN) in MSK-IMPACT data

(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

(I005) An Innovative Computational Algorithm for Assessing Cellular Origin, Clonality, and Tumor Zygosity of Short-Variants Identified in Clinical Biopsy Samples

(I006) pVACtools: An Open-Source Informatics Suite for Comprehensive Neoantigen Characterization and Immunotherapy Design

(I007) AutoDBValidator: An Efficient Solution for Systematic and Automated Validation of Genomic Variant Database Upgrades

(I008) Automated Inflammation Assessment Using Digital Pathology Foundation Models For Use In A Molecular Laboratory

(I009) Automated OncoTree Coding of Surgical Pathology Reports for Molecular Pathology Correlation via a Local RAG-LLM Pipeline

(I010) Characterizing alterations via NGS in difficult to map genes

(I011) Clinically Actionable Protein Expression Biomarkers for FDA-Approved Precision Oncology Therapies

(I012) Comprehensive & Precise Structural Variant Detection With a Single Assay

(I013) Development of NGS Fingerprint Analysis (NGSFA) for the Molecular Diagnostic Laboratory

(I014) Establishing Custom Bioinformatics Pipeline for Comprehensive Detection of Cytomegalovirus (CMV) Drug Resistance Mutations

(I015) Exploider: An Integrated Algorithm for Large-Scale Copy Number Alteration Detection in Whole-exome sequencing data

(I016) High-Resolution Detection of Copy Number Alterations in Clinical Solid Tumor Samples Using Targeted Next Generation Sequencing

(I017) Illumina Connected Insights: Evaluation of Accuracy of Automated Variant Interpretation Using Oncology Guidelines (ClinGen/CGC/VICC and AMP/ASCO/CAP) and PrimateAI-3D

(I018) Improved algorithms for optical genome mapping workflows in constitutional disease and oncology applications

(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

(I020) Integrating RNA and DNA Analysis to Enhance Detection, Annotation, and Interpretation of Somatic Variants and Active Driver Mutations in Tumors

(I022) Killing the Biopsy Twice: From Pixels to Mutational Profiles Evaluating Histiomics Frameworks to Infer Genomic and Transcriptomic Profiles in Solid tumors

(I023) Leveraging Global Data Standards and Infrastructure Improvements to Improve Clinical Variant Classification Operations

(I024) Leveraging RNA Splicing Analysis to Detect Actionable Oncogenic Events in MSK-TARGET data

(I025) Tumor-NAT Explorer: A User-Friendly Deep Learning Pipeline for ROI Selection from H&E Whole-Slide Images in Clinical Research

(I026) Using variant effect predictors calibrated for clinical classification in OpenCRAVAT and CIViC

(I027) Validation of the 500-gene GOAL Panel Using Cloud-enabled Bioinformatics Pipeline for Clinical Use

(I028) VannoAI: AI-Augmented Variant Annotation and Reporting: An Open-Access, Scalable Framework for NGS Interpretation in Resource-Constrained Settings

(I029) TOPPings: A Web-Based Platform to Accelerate Case Review and Reporting for a Solid Tumor NGS Panel

(I030) Sendout Scribe: Automated, Open Sourced, Data Normalization from Molecular Genetics PDFs with Multi-Model Validation

(I031) Genetic Characteristics and Survival Outcomes between Different Ethnicities with Colon Adenocarcinoma

(I032) SeqForge: A Comprehensive Short and Long Read Generator, Variant Validator, Spike-In Tool, and Mutational Signature Emulator

(I033) A Secure AI Assistant Combining Large Language Models with Retrieval-Augmented Generation for Clinical Laboratory Documentation Interpretation and Management

(I034) Targeting Metabolic Signatures of Tumor-Associated Macrophages in High-Grade Brain Tumor.

(I035) A Machine-Learning Model Predicts Phenotypic Antibiotic Susceptibility with High Accuracy Using PCR Results and Demographic Information for UTI Patients

(I036) Gene-Contribution–Interpretable XGBoost Outperforms Deep-Learning and Conventional Models in Predicting Primary Tumor Site from 1,352 In-House NGS Panels

(I037) A universal platform for cancer diagnostics leveraging AI-based RNA-Seq analysis

(I038) Accelerating curation of CRISPR Screen Data from public repositories

(I039) Deep learning–driven probe design for hybrid-capture NGS panels enables even and specific target enrichment

(I040) Detecting Contamination in Cell-free DNA Sequencing Libraries using Germline Markers

(I041) Development and Evaluation of a Pathogenicity Prediction AI for Clinical Application: An Empirical Study Using ClinVar

(I042) Integrative Transcriptomic Classifier for Tissue-of-Origin Prediction Using GTEx and TCGA: Toward Scalable Molecular Decision Support in Oncology

(I043) Interpretable Multi-Omics Classifier for MET Overexpression in Clear Cell Renal Cell Carcinoma Using SHAP Explanations

(I045) Multi-Analytical Integration of Public RNA-seq Data Reveals Blood-Based Sepsis Severity Biomarkers for Predictive Modeling

(I046) Reducing Inappropriate BCR::ABL1 Test Orders Through EMR-Integrated Clinical Decision Support and Standardized Order Panels

(I047) Multimodal AI for Pathogenic Variant Prioritization and Histologic Classification in CNS Cancers

(I048) ARTI: An open-source tool for Annotation, Rules and Tiering, and Interpretation of Genetic Variants

(I049) Multimodal AI Agent Framework for Integrative Pharmacology and Toxicology Evaluation

(I050) Establishing data-driven variant allele frequency cut-off of ASXL1 p.G646fs in an amplicon-based next generation sequencing for myeloid neoplasms