Thursday, November 7, 2019 |
|
SCIENTIFIC INFORMATION |
|
10:00am - 11:30am |
CONCURRENT SYMPOSIACriminal Investigations & ForensicsRapid DNA: From Research to Field Amanda Sozer, PhD, SNA International, Washington, DC, USA Forensic DNA Testing at the Crossroads of Science, Law, and Policy Frederick Bieber, PhD, Harvard Medical School, Boston, MA, USA Basics of Genetic Genealogy and Its Impact on Forensic Investigation Howard Cash, Gene Codes Corporation, Ann Arbor, MI, USA CRISPR-CAS: Applications for Diagnostics & Therapeutics of Human DiseasesGetting More from your MiSeq with DASH and FLASH Emily Crawford, PhD, Chan Zuckerberg Biohub, San Francisco, CA USA Assessing Unintended Off-Target Mutations Caused by Cas9 and Other Gene Editing Enzymes Vikram Pattanayak, MD, PhD, Massachusetts General Hospital, Boston, MA, USA |
12:45pm - 2:00pm |
BREAKOUT SESSIONSDiagnostic Stewardship for Molecular TestingKimberle Chapin, MD, Brown Biology and Medicine, Providence, RI, USA The Art of Navigating Molecular Infectious Disease Test Results: From Ordering To Application In the Clinical Setting Sejal Morjaria, Memorial Sloan Kettering Cancer Center, New York, NY, USA Biobanking and 3D-Organoid TechnologyPerspective on Establishing a Biorepository for Clinical and Research Use Kristy Crooks, PhD, University of Colorado, Aurora, CO, USA Profiling the DNA Damage Repair Capacity of High Grade Serous Ovarian Tumors using Patient-Derived Organoids Sarah Hill, MD, PhD, Dana-Farber Cancer Institute, Boston, MA, USA |
Friday, November 8, 2019 |
|
SCIENTIFIC INFORMATION |
|
8:15am - 9:45am |
SYMPOSIA SESSIONEmerging Tech for Circulating Tumor Cells, Beyond Counting/ctDNA Alternative FluidsAdvances in Liquid Biopsy: Isolation, Analysis and Expansion of CTCs Sunitha Nagrath, PhD, University of Michigan, Ann Arbor, MI, USA Microfluidic Platforms for the Efficient Isolation of Circulating Leukemia Cells and Circulating Plasma Cells Steven A. Soper, PhD, The University of Kansas, Lawrence, KS, USA |
10:45am - 12:15pm |
CONCURRENT SPECIAL SESSIONSUpdates on Emerging TechnologiesNanopore Sequencing Comes of Age Miten Jain, PhD, University of California Santa Cruz, Santa Cruz, CA, USA Extreme Molecular Diagnostics Carl Wittwer, MD, PhD, University of Utah, Salt Lake City, UT, USA |
Saturday, November 9, 2019 |
|
SCIENTIFIC INFORMATION |
|
7:00am - 8:00am |
TARGETED TOPICSMethylation Analysis TechnologiesDNA Methylation and Machine Learning in Molecular Pathology for Diagnosis and Clinical Management Matija Snuderl, MD, NYU Langone Medical Center, New York, NY, USA Oncogene Activation by Pan-Cancer DNA Hypermethylation Wei Li, PhD, Baylor College of Medicine, Houston, TX, USA Liquid Biopsy in Infection & CancerOpportunities and Challenges of Fungal Cell-Free DNA Testing for Diagnosis of Invasive Fungal Infection Niaz Banaei, MD, Stanford University, Stanford, CA, USA Detecting HPV Circulating Tumor DNA by Liquid Biopsy Daniel Higginson, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA |
10:45am - 12:15pm |
CONCURRENT SPECIAL SESSIONSWhole Genome Sequencing for Bacterial Strain Typing & Genomic SurveillanceReal-time Clinical Applications for Whole Genome Sequencing of Bacteria Brad Cookson,MD, PhD, University of Washington, Seattle, WA, USA Bacterial Strain Typing in the Age of Whole Genome Sequencing: Promises and Pitfalls Richard Goering, PhD, Creighton University School of Medicine, Omaha, NE, USA |
1:30pm - 2:45pm |
BREAKOUT SESSIONSPlatform Presentations of Selected Abstracts Abstracts are selected by the Program Committee Platform Presentations of Selected Genetics AbstractsG008 - Germline RAD51B loss-of-function variants confer susceptibility to hereditary breast and ovarian cancers and result in Diana Mandelker, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA G014 - A framework of critical considerations in interpretation of NGS based tests for germline disorders - On Behalf of CLSI Document Development Committee (DDC) on Nucleic Acid Sequencing (MM09) Avni Santani, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA G023 - Integrated Germline and Somatic Analysis Identifies Actionable Cancer Predisposing Germline Mutations in 9,734 Patients with Advanced Cancers Liying Zhang, MD, PhD, Memorial Slone Kettering Cancer Center, New York, NY, USA G036 - Significance Associated with Phenotype (SAP) Score – A Method for Ranking Genes and Genomic Regions Based on Sample Phenotype Jianling Ji, MD, MS, Children's Hospital of Los Angeles, South Pasadena, CA, USA G010 - A Method to Missense Madness: Improving Clinical Variant Interpretation with a Pathway-Focused Functional Assay Sarah Brnich, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA Platform Presentations of Selected Infectious Diseases AbstractsID019 - Mycoplasma genitalium assay results from high and low risk populations: implications for sexually transmitted infection panel menu Kimberle Chapin, MD, Brown Biology and Medicine, Providence, RI, USA ID018 - Cell-free RNA is More Sensitive than DNA for the Detection of Pediatric Bacterial Sepsis via Shotgun Metagenomic Sequencing Caitlin Dougherty, The Children's Hospital of Philadelphia, Philadelphia, PA, USA ID020 - Clinical and Histologic Features of Patients Tested Using the BioFire FilmArray Gastrointestinal Panel Jonathan Mowers, MD, PhD, Michigan Medicine, Ann Arbor, MI, USA ID043 - Investigation of amplicon sequencing technology in diagnosis of drug resistant tuberculosis by testing FFPE specimens Nanying Che, PhD, Departement of Pathology, Beijing Chest Hospitial, Medical Capital University, Beijing, China ID003 - Microbial Cell-free DNA Sequencing for Multiplexed Detection and Quantitation of Cytomegalovirus, Epstein-Barr Virus, and BK Virus Timothy Blauwkamp, Karius, Inc., Iowa City, CA, USA Platform Presentations of Selected Informatics AbstractsI031 - Platform-agnostic deployment of bioinformatics pipelines for clinical NGS assays using containers, infrastructure orchestration, and workflow manager Sabah Kadri, PhD, Lurie Children's Hospital of Chicago, Chicago, IL, USA I013 - Benchmarks for Difficult-to-Sequence Genes and Structural Variants Justin Zook, PhD, National Inst of Standards & Tech, Gaithersburg, MD, USA I040 - Machine Learning Applications for Patient Testing: Computational Assessment of MSI by NGS in the Clinical Laboratory Gregory Omerza, PhD, The Jackson Laboratory, Farmington, CT, USA I020 - Mixed Reality for a Precision Medicine Laboratory: the Future is Now! Andrea Sboner, PhD, Weill Cornell Medicine, New York, NY, USA I004 - Impact of Next Generation Sequencing Panel Composition on Tumor Mutation Burden Calculation – In Silico Comparison of Frequently Utilized Panels Nicholas Bevins, MD, PhD, University of California at San Diego, San Diego, CA, USA Platform Presentations of Selected Technical Topics AbstractsTT011 - A Comprehensive Assessment of onco-panel sequencing across multiple laboratories and technologies Joshua Xu TT066 - Variants Reported by Tumor-Only Clinical Oncology NGS Testing Are Frequently Found in the Germline of Pediatric Patients Azhar Saeed, MD, MSc, University of Kansas Medical Center, Kansas City, KS, USA TT071 - EXaCT-2: Augmented Whole Exome Sequencing Optimized for Clinical Testing in Oncology Duane Hassane, PhD, Weill Cornell Medicine, New York, NY, USA TT072 - Dissimilarity score (DisScore): identifying potential discordance between anatomic pathology and mutation landscape in the evaluation of clinical sequencing as part of a molecular tumor board Grzegorz Gurda, MD, PhD, Gundersen Health System, La Crosse, WI, USA TT055 - Digital Methylation Specific Multiplex Ligation-Dependent Probe Amplification: A novel MLPA based technique for assessing promoter methylation status in cancer Jan Smout, MSc, MRC Holland, Amsterdam, Netherlands The Future of the AMP v. Myriad Decision: Exploring Potential Impacts on Multigene Panel Testing and Patient Care(Sponsored by the AMPProfessional Relations Committee) Panel Discussion Charles Duan, JD, The R Street Institute, Washington, DC, USA |