Genetics

(G001) Characterization of Reference Materials for CYP3A4 and CYP3A5: A GeT-RM Collaborative Project

(G002) Title Early Identification of KRAS and PIK3CA Mutations Using Multiplex Digital PCR Compatible with Liquid Biopsy Samples to Support Tumor Progression Surveillance

(G003) High-depth paired exome analysis in the evaluation of germline and second-hit variants in vascular anomalies and neurocutaneous disorders

(G004) A Consensus-Based Machine Learning Framework to Determine Genetically Inferred Ancestry (GIA) from Comprehensive Genomic Profiling (CGP) Sequencing Results

(G005) Improved Classification of Germline PAX5 Variants Using Tumor Sequencing Data and Global Gene Expression Profiling

(G006) Impact of Actionable Clinical Genetic Testing in the Setting of a Population Biobank: Survey Results from the Colorado Center for Personalized Medicine Biobank

(G007) Outcomes and Utility of TTR Reporting in the Colorado Center for Personalized Medicine Biobank

(G008) Urinary Comprehensive Genomic Profiling Predicts Urothelial Cancer Up to 12 Years Ahead of Clinical Diagnosis: An Expanded Analysis of the Golestan Cohort Study

(G009) Improved Genomic Classification in Myeloid Neoplasia Using Optical Genome Mapping and Panel-Based NGS

(G010) Clinical Validation of Saliva Swab Specimens for Tagmentation-based Whole Genome Sequencing

(G011) The Application of Transcriptome Sequencing to Hereditary Cancer Predisposition Variant Analysis: Case Series and Single Institution Experience

(G012) Therapy-Focused Germline Analysis in Tumor-Normal Sequencing for Advanced Cancer Patients.

(G013) Do Not Pickle All Tumor Tissue. Cryopreserved Tissue is Superior to FFPE Tissue in Molecular Analysis

(G014) Genetic Testing in Patients with Suspected Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center

(G015) One-Year Experience of Comprehensive Genomic Testing and Reporting of Tumor and Germline Samples at Initial Presentation for All Pediatric Oncology Patients at St. Jude Children’s Research Hospital

(G016) Impact of Variants of Varying Clinical Consequence in Underrepresented Populations and Implications for a Minimum Variant Set for Pan-Ancestry Cystic Fibrosis Carrier Screening

(G017) Evaluation of PGx data to enhance the clinical utility of whole-genome sequencing testing.

(G018) TPMT and NUDT15 Genotyping, TPMT Enzyme Activity and Metabolite Determination for Thiopurines Therapy: A Reference Laboratory Experience

(G019) Variant Classification Changes over Time at a Clinical Molecular Diagnostic Laboratory

(G020) Recommendations for the Interpretation of Low Penetrance Variants and Risk Alleles: Updates from the ClinGen Low Penetrance/Risk Allele Working Group

(G021) Molecular Discrepancies in Gastric Cancer between Asians and White Populations

(G022) Comparative Analysis of Next-Generation Sequencing and Rapid Molecular Analysis: Evaluating Efficiency, Accuracy, and Clinical Applications

(G023) Evaluation of a Comprehensive Pharmacogenetics Panel by Next Generation Sequencing.

(G024) Landscape of BCL11B mutations in Human Cancer

(G025) Next-generation cytogenomics using proximity ligation technology on the AVITI genome sequencing platform

(G026) Targeted RNA expression-based signaling pathway analysis of epigenetic subtypes of triple negative breast cancers identifies mutation-independent pathway activation

(G027) Managing Discrepant Sex Information During Clinical Molecular Genetic Testing – A National Reference Laboratory’s Perspective

(G028) How Cancer Outcomes are Affected by Alterations in a VGSC Gene

(G029) Improving Systemic Mastocytosis Diagnosis With a Single-Well Multiplexed Assay for Detection of Hereditary Alpha Tryptasemia Genotypes

(G030) Accurate Genotyping of Complex, Clinically-Relevant Variants in 11 Hard-to-Decipher Genes by Combining Novel PCR Chemistries with Any-length Nanopore Sequencing for Carrier Screening

(G031) Leveraging Droplet Digital PCR to Refine the Reportable Copy Number Variant Size in a Clinical Chromosomal Microarray Validation of the Infinium Global Diversity Array with Cytogenetics BeadChip

(G032) Validation of a Targeted Next-generation Sequencing Panel for Pharmacogenomic Testing and the Integration of the Allele Balance with CYP2D6 Copy Number

(G033) Analytical Utility of a One-Step cDNA Synthesis and Real-Time PCR Assay for the Rapid Detection of Common Fusion Genes in Acute Leukemia

(G034) Characterization and enrichment of a pharmacogenetic gene panel for variant detection, phasing, and methylation status using Oxford Nanopore Technologies’ Adaptive Sampling

(G035) Sex-mismatch: Sample Swap or Something More Interesting? Addressing Discrepancies Between Chromosomal Sex and Gender

(G036) Outcomes And Molecular Findings of BPDCN Patients In The Current Era of The First FDA-Approved Toxin-Fused Anti-CD123 Agent Tagraxofusp, A Single Institution Experience

(G037) Revolutionizing Genetic Testing for Tissue and Liquid biopsies : Automating and Simplifying Next-Generation Sequencing Workflows at MD Anderson Cancer Center

(G038) DPYD variants of the HapB3 haplotype are not in complete linkage

(G039) Tumor Sequencing with Expanded Gene Panels: Incidental Germline Variants Associated with a Non-cancer Phenotype

(G040) Strategies for Identifying Potential Germline Findings in Somatic Tumor-Only Testing. How Lab Genetic Counselors Pass the Baton to Their Colleagues in the Clinic.

(G041) Clonal hematopoiesis of indeterminate potential in Korean patients with cognitive impairment

(G042) Development and Validation of Postmortem Hereditary Next-Generation Sequencing Tests using Formalin-Fixed Paraffin Embedded Samples

(G043) High Definition PCR (HDPCR™) Detection of Molecular Biomarkers in Acute Myeloid Leukemia Contrived Samples for Measurable Residual Disease

(G044) Low-Cost Customizable Ataxia Panel for Increased Accessibility and Diagnosis

(G045) Variant Assessment via Comprehensive Genomic Profiling of Patients with Non-Small Cell Lung Carcinoma (NSCLC) in the Community Oncology Setting

(G046) A Comprehensive Hereditary Hearing Loss Panel Update with a Novel Approach for Supplemental Sequencing using Amplicon-Based NGS

(G047) Liquid Biopsy using Aqueous Humor in Retinoblastoma

(G048) A gene-specific hereditary cancer association testing by utilizing 162 gene panel.

(G049) ASXL1 p.G646Wfs*12 Detection Enabled and Integrated into a Rapid Automated Myeloid Variant Profiling Solution on Ion Torrent NGS Genexus System

(G050) TPMT*8 in Thiopurine Metabolism

(G051) Real Versus Artifact: Utilizing VAFs to Inform Variant Curation of INDELs Occurring at Coding Homopolymer Repeat Sequences in NGS Tumor Data

(G053) Detection of repeat expansion disorders through whole genome sequencing in patients with neurologic diseases

(G054) Validation of a BRAF V600E/K/R ddPCR Assay

(G055) Automating Archer’s FusionPlex®-HT and VariantPlex®-HT Library Prep Workflows on Tecan Fluent Workstations for High-Throughput Next-Generation Sequencing

(G056) Identification of a novel RPS7 non-coding variant in a rare form of Diamond-Blackfan Anemia by whole genome sequencing

(G057) Developing In-House Genetic Testing to Analyze KRAS Variants in Pancreatic Cyst Fluid Aspirates

(G058) Diagnostic Utility of Next-Generation Sequencing on Challenging Small/Flat Urothelial Lesions

(G059) Implementing Quantitative BCR-ABL P210 Testing in a Rural Healthcare Setting

(G060) Deep Learning Based Methylation Classifier for Cancer of Unknown Primary

(G061) Diagnostic Utility and Patterns of Long Contiguous Stretches of Homozygosity

(G062) Enhancing Screening Accuracy for Rare Autosomal Aneuploidies Using Low-Pass Whole Genome Sequencing and Cell-Free DNA in Amniotic Fluid Supernatant

(G063) CYP2C19 Pharmacogenomics Expanded: Beyond Currently Interrogated Clinical Variants

(G064) Tumor-First Testing; Evaluation of HHMS Disease-Causing Variants in a Cohort of Ontario Patients with Myeloid Neoplasms

(G065) Novel Clinical Features in the Individuals with Germline Intragenic Deletions of CUX1

(G066) High-throughput Combined SNP and CNV Analysis using a TaqMan Research Panel on OpenArray with TaqMan Drug Metabolism Genotyping and Copy Number Assays

(G067) Descriptive Study on the Long-Term Survival of Breast Cancer Women with BRCA1/2 Germline Mutation: A Single-Center Study

(G068) Clinical Utility of a Pan-cancer ctDNA Panel as a First-approach Test

(G069) Novel ZEB2 Heterozygous Variant Identified at Autopsy in Mowat Wilson Syndrome Patient with Rare Intracranial Spindle Cell Lipoma

(G070) Whole Transcriptome RNA Sequencing to Identify Gene Fusions, Single Nucleotide Variants and Splicing Variants in Genes Associated with Somatic and Germline Malignancies

(G071) Enrichment of Methylomes by XR-methylSeq and Deconvolution of Cell Types

(G072) Utility of using a 7-deletion assay to confirm ambiguous large deletions from MPLA-based HBA Testing

(G073) Insulin Resistance Risk Can Promote Impaired Phospholipid Turnover via SREBFs Gene Pathway Triggering to Metainflammation in Overweight Cardiovascular Population

(G074) Using Genotyping-based Mendelian Error Analysis to Identify and Minimize the Risk of Sample Misidentification in Trio Exome Sequencing Service

(G075) Tapping into the Archives: Yield of Postmortem Genetic Testing from Formalin-Fixed Paraffin-Embedded Tissue in Sudden Cardiac Death

(G076) Mosaic Trisomy 1q Caused by a Novel Unbalanced Structural Rearrangement and its Mechanism of Origin: A Rare Case of Cytogenetic Anomaly, Congenital Abnormalities and Neonatal Death

(G077) Comparison of four commercially available whole genome amplification commercial kits for next generation sequencing

(G078) Cancers With Biallelic Somatic Inactivation of Base-Excision Repair Glycosylase NTHL1 Frequently Display Hallmark Non-CpG C>T Transitions as the Predominant Mutational Process.

(G079) Narrating Uncertainty of Exome Sequencing: Insights from an Asian Cohort of 300 Patients

(G080) A ratiometric-encoded microfluidic platform for quantitative multiplex assessment of DNA methylation biomarkers

(G081) New LAMP Method for Detection Clinically Significant EGFR Mutations

(G082) In-house Workflow for Efficient and Accurate Diagnosis of Hydatidiform Molar Pregnancy

(G083) Validation of the TruSight Oncology 500 ctDNA Assay for Clinical Use

(G084) 1q Jumping translocation in myeloid malignancies: frequently mutated genes are often associated with worse prognosis

(G085) Development of External Controls for SMA Carrier Screening to Accurately Monitor SMN1/SMN2 Copy Number Variation and Disease Modifier Variants

(G086) Beyond the classic triad: An atypical pediatric case of HDR Syndrome provides insights for early detection.