Genetics

(G001) Development of TAF1 genotyping assay for X-linked dystonia-parkinsonism-associated haplotype detection

(G002) "Maternal Sucralose Consumption During Pregnancy Predisposes Offspring to Obesity, Metabolic Dysfunction, and Systemic Inflammation at Birth and in Adulthood."

(G003) "Third-Generation Sequencing from Discovery to Diagnostics"

(G004) Evaluating Recurrent Pregnancy Loss using Optical Genome Mapping integrated with gene-specific Structural Variant profiling

(G005) A Decade of PMS2 Germline Genetic Testing Experience at a U.S. Reference Laboratory

(G006) Frequency of Germline Mutations and Patient Identification of Lynch-like Syndrome in Endometrial cancers under universal Lynch syndrome screening in Rwanda.

(G007) Long-read sequencing panels to consolidate challenging germline targets – applications for carrier screening and repeat expansion disease diagnostic research

(G008) Mutational Mechanisms and Recurrence Risk in a Family with Jacobsen and Wolf-Hirschhorn Syndromes

(G009) Abnormal NIPS Testing in Vanishing Twin Pregnancies: Examples from a Hospital Associated Laboratory

(G010) Identification of Hypomorphic and Pathogenic ATM Variants via High-throughput Functional Screening

(G011) Analytical validation of germline variant classes using PCR-free whole genome sequencing

(G013) Preliminary Studies of the Agena Bioscience HFE Genotyping Assay

(G014) Premature Coronary Artery Disease in Young Individuals: A Molecular Autopsy Study to Decipher Cause of Sudden Cardiac Death

(G015) Breaking Bad: Revisiting FRA16B through the lens of Optical Genome Mapping in a Case of Recurrent Pregnancy Loss

(G017) Cancer Predisposition Genes and Risk Factors for Multiple Primary Cancers

(G018) Clinical Features Associated with the CFTR 5T Variant in Suspected Cystic Fibrosis Cases

(G019) Detection of BRAF V600E mutation and expression of PD-L1, B7-H3 and MCL-1 in differentiated thyroid carcinoma: Correlation with Clinicopathological Features and Prognosis

(G020) Development and reporting of an enhanced polygenic risk score clinical assay for 8 cardiometabolic conditions

(G021) Development of a CFTR Control Panel to Monitor All ACMG-100 Variants

(G022) Exome Studies In Patients Diagnosed With Thyroid Cancer And Breast Cancer In Medical History.

(G023) Feasibility of PromethION Platform Expansion with the AmplideX® Nanopore Carrier Plus Kit for High Throughput Applications

(G024) Gene specific proportions of pathogenic small nucleotide variants and copy number variants inform an optimized MLPA and NGS diagnostic strategy

(G025) Identification of Genetic Alterations in Familial Small Intestinal NETs via Whole Blood DNA Sequencing

(G026) Identifying genetic causes and establishing a comprehensive diagnostic approach for WES-negative paediatric population with suspected Neurodevelopmental disorder

(G027) Impact of Whole-Exome Sequencing in 100 Cases of Hypertrophic Cardiomyopathy in the Indian Subcontinent

(G028) Incidental Detection of Y Chromosome Material in Female Patients Identified by NIPS

(G029) Optical Genome Mapping Reveals Chromoanagenesis in Patients with Undiagnosed Congenital Disorders

(G030) Optimizing coverage for long-read variant detection in rare disease genomics

(G031) Recurrent, Cryptic BRCA1 Complex Rearrangement by Whole-genome Sequencing in Pancreatic and Breast Patients

(G032) Repurposing IGV for Prioritizing Copy Number Variants Identified by CytoScan™ SNP-CMA Prior to ACMG Guideline-Based Interpretation

(G033) Scaling high-throughput genomic classification: lessons from the PopSeq project

(G034) Spectrum of germline mutations in Ukrainian patients with Lynch syndrome. A pilot retrospective cohort study

(G035) Structural Variants in 19q13.42 Affecting PRPF31: Three Case Reports of Autosomal Dominant Retinitis Pigmentosa in Mexican Patients

(G036) Uncovering BRCA1/BRCA2 Genetic Hotspots in Northern India - A Tertiary Care Investigation

(G037) A Comparative Analytical Validation of SNP and CNV Pharmacogenomics Workflows Using TaqMan™ Assays on QuantStudio™ 12K Flex OpenArray® platform and QuantStudio™ 6 Pro 384-well Platform

(G038) A Comprehensive and Streamlined Approach to Deciphering Challenging ACMG Tier 3 Carrier Screening Genes

(G039) AI-trained Karyotyping Algorithm Facilitates Clonal Evolution Assessment: A GATA2 Deficiency Syndrome AML Case Example

(G040) Characterization of MTAP Loss with Concurrent CDKN2A and CDKN2B Alterations and Evaluation of IHC Concordance

(G041) Development and validation of an integrated model to predict BRAF V600E mutation in Papillary thyroid cancer from Cytological Slides and CT images

(G042) Clinical Optimization of Long-Read PCR-based Oxford-Nanopore Sequencing of CFTR in Dried Blood Spots

(G043) Combining NGS and ddPCR Methods for Detection of Variants in the Highly Homologous NCF1 Gene

(G044) Comparative Evaluation of SMN1 and SMN2 Copy Number Detection Using Two Commercial digital PCR Kits for Spinal Muscular Atrophy (SMA) Screening

(G046) Development of Certified Reference Materials for Standardization of cfDNA Isolation in Liquid Biopsy

(G047) High-Volume (50 mL) Urine Input Outperforms Lower Volumes in Liquid Biopsy cfDNA Detection of Low-Frequency Mutations

(G048) Evaluation of Next-Generation Sequencing for Genotyping SERPINA1 when compared to PCR

(G049) Effect of Complete Blood Count on Concentration and Purity of DNA Extracted for JAK2V617F Analysis in Myeloproliferative Neoplasms

(G050) Machine learning-based multi-omics analysis identified a T-cell exhaustion-associated methylation signature for predicting immunotherapy resistance and poor prognosis in gliomas

(G051) From Sampling to Sequencing: A Liquid Biopsy Preanalytical Workflow to Maximize Multianalyte Information From a Single Sample

(G052) Precision Single-Exon CNV Detection via Integrated digitalMLPA and WES: A High-Fidelity, Non-Invasive Approach for Hereditary Cancer Diagnostics

(G053) gOS: A Microscope for Whole Genome Oncology

(G054) Reclassifying Variants of Unknown Significance for Genetic Kidney Diseases Using a Healthcare System Genetic Database and Functional Testing

(G055) High Success of DNA and RNA Comprehensive Genomic Profiling Across Tumor Types: Impact of Preanalytical Factors Including Specimen Site, Specimen Age, Submission Matrix, and Microdissection

(G056) Title: Enhanced Genomic Profiling in Multiple Myeloma: A Real-World Comparison of PlasmaSeq and FISH

(G057) Implementation of 2D analysis on AmplideX SMN1/2 Plus kit improves assay performance and SMN1 and SMN2 copy number calling for Spinal Muscular Atrophy Carrier Testing

(G058) Improvement of Clinically Significant Variant Detection in SBDS via Concordance Testing

(G059) Lab-on-Chip Multiplexed qPCR Analysis Utilizing Melting Curve Analysis Detects Up to 144 Alleles with Sub-hour Turn-around Time

(G060) Long-Range PCR and Long-Read Sequencing for Improved Carrier Screening: A Single-Site Evaluation

(G061) Multiplex Detection of HOXA9 Methylation and KRAS Mutations Using MSRE and ddPCR in Lung Cancer Plasma Samples

(G062) Orthogonal CNV Confirmation Using qPCR: A Practical and Scalable Approach for Clinical Laboratories

(G063) Performance Assessment of a Distributive Non-Invasive Prenatal Testing Process within a Physician-Owned Laboratory

(G064) QIAseq xHYB Long Read Hereditary Cancer Panel targeted-capture accurately detects large structural variants through a streamlined workflow and straightforward analysis pipeline.

(G065) Quantitative Comparison of cfRNA and cDNA Recovery From Plasma and Cell Culture Media Using Two Commercial Extraction Platforms

(G066) Results of a Time-and-Motion Study of Two Next-Generation Sequencing Workflows for Oncology Biomarker Profiling

(G067) Tet-Assisted Pyridine Borane Sequencing Enables Integrated Variant and Epigenetic Detection In Clinically-Relevant Samples

(G068) Utility of multiplex ligation-dependent probe amplification in the diagnosis of Chromosome 22q11.2 deletion Syndrome

(G069) Validation of an object detection model assisted workflow for enumeration and fusion fluorescence in situ hybridization (FISH) probes in chronic lymphocytic leukemia (CLL)

(G070) When Less is More: Enhanced Whole Genome Sequencing Library Preparation for Ultra-Low DNA Inputs with the truCOVER Library Prep Solution

(G071) Systems Genetics of Lifespan and Senescence in Drosophila melanogaster

(G072) A prognostic transcriptomic signature defines a high risk molecular subtype in proximal colon cancer

(G073) Analytical and Clinical Validation of a Methylation-Based cfDNA Assay for Early Detection of High-Mortality Cancers in Asymptomatic Populations Using a Cost-Efficient Reflex Approach

(G074) Clinical Presentations of the R485K Polymorphism Compared to Other Hypercoagulable Genetic Disorders

(G075) CDK12 and ERBB2 Co-Amplification in Urothelial Carcinoma: A Retrospective Institutional Study.

(G076) Development of a High-throughput Targeted Genomic Assay for Diagnosis of Salivary Gland Neoplasms

(G077) Deep Learning-Based HRD Detection Using Low-Pass Whole Genome Sequencing

(G079) Interleukin-6 Polymorphism is Associated with Increased Presence and Quantity of Red Complex Oral Bacteria: A Large Study Investigation

(G080) Mechanosensitive BMP4 and the IL-33/sST2 Axis in Cardiac Remodeling Associated with Diet-Induced Obesity in Mice

(G081) Identification and characterization of late mosaic variants in cancer susceptibility genes

(G082) The Dual Impact of Telomere Length in Multiple Sclerosis: Insights from Experimental to Computational Studies

(G083) A broad content reference standard to support pharmacogenomic testing development

(G084) An Integrated Workflow for Detection of Single Nucleotide Polymorphism and Copy Number Variation on Buccal and Blood Specimens Tailored for Pharmacogenomics Applications

(G085) Clinical Application of a Multiplex Ligation-Dependent Probe Amplification (MLPA) Assay for CYP2D6 Pharmacogene Genotyping

(G086) Detecting Single Nucleotide Polymorphisms and Copy Number Variations in Low Concentration Samples for Pharmacogenomics Applications

(G087) Development of a novel, highly inclusive qPCR genotyping assay to detect DPYD decreased and no function variants directly from EDTA whole blood

(G088) Lab-on-Chip Multiplexed qPCR Analysis Identifies MT-RNR1 Hearing Loss Risk Alleles Allowing for Point of Care Genotyping for Testing and Screening

(G089) Novel Pharmacogenomics Comprehensive Plasmid Controls with Integrated Genotype and Copy Number Variations Targets

(G090) Pharmacogenetics 87-Variant Genotyping Panel Based on AMP Two-Tier Strategy for Clinical Testing

(G091) Preliminary Studies of the Agena Bioscience Veridose DPYD Plus Assay

(G092) Scalable pharmacogenomics (PGx) using targeted long-read genotyping panels

(G093) Validation and clinical implementation of NGS based Pharmacogenomics testing program at a hybrid Academic-Community based health care system.

(G094) Diagnostic Utility of Clinical Testing for Somatic Variation Associated with Cortical Malformations and Epilepsy: An Initial Review

(G095) A custom pan-cancer panel for comprehensive mutation detection

(G097) A Single Center’s Experience Performing Somatic Biomarker Testing Within Pediatric Cancer

(G098) Analytical Validation of LymphDetectTM: A Tumor-Informed ctDNA Assay for Detection of Molecular Residual Disease in HPV-Negative Head and Neck Cancer

(G099) Bridge Capture™ & Nicking Loop™: NGS library preparation methods for precision genomics and universal NGS read-out

(G100) cfDNA Reference Material: Mimicking Human-Like Profiles

(G101) Clinical Utility of Targeted Sequencing using a 1021-Gene Variant Panel for Precision Oncology

(G102) Development and Clinical Utility of a Whole Genome SNP/Copy Number Microarray for Assessment of Mesenchymal Tumors

(G103) Development of a tertiary analysis workflow for rapid and scalable molecular profiling of hematologic malignancies

(G104) Evaluation of cfDNA Mutation Recovery from Widest Sample Volume Range using Magnetic Bead-Based Extraction.

(G105) Genetic Landscape of Myeloid Neoplasms Harboring CSF3R Mutations

(G106) Genomic Profiling of Pediatric Acute Lymphoblastic Leukemia Patients with High Hyperdiploidy

(G108) Improving Clinical Classification of CDKN2A Variants through Transcript-Specific Interpretation in Solid and Hematologic Cancers

(G109) Integrated Genomic Profiling in Myeloid Malignancies: Insights from Next-Generation Sequencing and Fluorescence in situ hybridization in a Real-World UVA Cohort

(G110) Multiplex Digital PCR as a Tool for Tumor Surveillance of BRAF and ESR1 Mutations in Liquid Biopsy Specimens

(G111) Novel Variants Associated with High Residual Disease in DLBCL

(G112) Preliminary Analysis of cfDNA Dynamics in Pediatric CNS Tumors via CSF Liquid Biopsy

(G113) Selection of somatic classification guidelines impacts the oncogenicity assessment of RAS variants

(G114) Structural variants drive enhancer hijacking and oncogene expression in an ovarian adenocarcinoma

(G115) Systematic Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes: Implications for Cancer Variant Classification

(G116) Validation of a New Exosome-Based RT-qPCR Test to Monitor ESR1 Mutations from Liquid Biopsies

(G117) Variants Identified in Somatic Mosaic Disorders: A Retrospective Review of Tissue-Based NGS Testing at a Pediatric Hospital

(G118) Generating expert-led disease and gene-specific recommendations for cancer variant interpretation