Program

Jeffery Klco, MD, PhD, St Jude Children's Research Hospital, Memphis, TN, USA

Large Indel Detection in Clinical NGS Assays
Sabah Kadri, PhD, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

Validation of the Karius Microbial Cell-free DNA Sequencing Test for Infectious Disease
Timothy A. Blauwkamp, PhD, Karius, Inc., Redwood City, CA, USA

A Smart Diagnostic: Technology that Learned to Identify and Count Individual Bacteria in Blood
Stephanie I. Fraley, PhD, University of California, San Diego, CA, USA

Binu Porath, PhD, Children's Mercy Hospital, Kansas City, MO, USA

Identification of a Novel Likely Pathogenic PIK3R1 Variant by Targeted Next-Generation Sequencing Analysis in a Patient with Overgrowth Syndrome and Lymphatic Malformation
Christopher Suciu, MD, MS Washington University School of Medicine in St. Louis, St. Louis, MO, USA

Sex Check: Verifying Patient Sex Based on Off-Panel SNPs on the X Chromosome
Jennifer Bynum, MD, Johns Hopkins, Baltimore, MD, USA

A Discrepancy Between the Human Reference Genome (GRCh37) and Transcriptome (RefSeq) Results in the Incorrect Annotation of a Clinically-Relevant Sequence Variant in RECQL4
Lisa Lansdon, PhD, Children's Mercy Kansas City, Kansas City, MO, USA

Newborn Genomic Sequencing for Diagnosis and Screening
Jonathan S. Berg, MD, PhD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

The Babyseq Project: A Study of Newborn Genomic Sequencing
Ingrid A. Holm, MD, MPH, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA

Challenges of Variant Interpretation: Sources of Variability among VITAL Participants
Elaine Lyon, PhD, Hudson Alpha, Huntsville, AL, USA

Birgit Funke, PhD, Veritas Genetics, Danvers, MA, USA
Harvard Medical School, Boston, MA, USA

Viral Genomics in the Clinical Lab
Alex Greninger, MD, PhD, University of Washington, Seattle, WA, USA

NGS for Natural Disasters
Randall Olsen, MD, PhD, Houston Methodist Hospital and Research Institute, Houston, TX, USA

Leveraging Computer Infrastructure to Scale Clinical Bioinformatics
Elaine Gee, PhD, BigHead Analytics Group, Windsor, CA, USA

Standards and Apps for Genomic Decision Support
Jeremy L. Warner, MD, MS, Vanderbilt University, Nashville, TN, USA

Laurence J. Clark, MD, National Government Services, E. Syracuse, NY, USA

Paul B. Gerrard, MD, Palmetto GBA, Columbia, SC, USA

Charles Matthews, ClearView Health Partners, Newton, MA, USA

Gabriel Bien-Willner, MD, Palmetto GBA, Columbia, SC, USA

Michael Fine, MD, Health  Net, Laguna Beach, CA, USA

Elizabeth Swisher, MD, University of Washington, Seattle, WA, USA

Stephen Lincoln, Invitae, San Francisco, CA, USA

Eric H. Bernicker, MD, Houston Methodist Hospital, Houston, TX, USA

Valentina Nardi, Massachusetts General Hospital, Boston, MA, USA

Jonathan A. Nowak, MD, PhD, Brigham and Women's Hospital, Boston, MA, USA

Angela Jacobson, MS, University of Washington, Seattle, WA, USA

Spliceosome Gene Mutations in MDS
Matthew Walter, MD, Washington University, St. Louis, MO, USA

Inherited Hematopoietic Malignancies
Lucy A. Godley, MD, PhD, The University of Chicago, Chicago, IL, USA

Are Meningitis/Encephalitis Panels Ready for Prime Time?
Kevin Alby, PhD, University of Pennsylvania, Philadelphia, PA, USA

Barbara A. Zehnbauer, PhD, Emory University School of Medicine, Atlanta, GA, USA

Jill Hagenkord, MD, Color Genomics, Burlingame, CA, USA

Elissa Levin, MS, Helix, San Francisco, CA, USA

Danielle Bonadies, MS, My Gene Counsel, Branford, CT, USA

Altovise Ewing, PhD, 23and Me , Mountain View, CA, USA

Kristy Crooks, PhD, University of Colorado, Denver, CO, USA

Circulating Tumor DNA (ctDNA) Detection in CSF in a Patient with Metastatic Melanoma to the CNS
Andres Moon, MD, University of Washington, Seattle, WA, USA

An Unusual Driver Mutation in a Lung Adenocarcinoma
Erik Nohr, MD, Stanford Healthcare, Palo Alto, CA, USA

LMNA/NTRK1 Fusion in a Paravertebral Soft Tissue Mass
Yulei Shen, MD, PhD, Baylor College of Medicine, Houston, TX, USA

Recurrent Glioblastoma with Primary and Secondary Features in a Patient with a Deficiency of Mismatch Repair
Martin Powers, MD, University of California San Diego, San Diego, CA, USA

Use of Molecular Testing to Predict Gonorrhea Treatment
Jeffrey D. Klausner, MD, MPH, University of California, Los Angeles, CA, USA

Value of Molecular AST Methods for Bacteria: Are We There?
Romney M. Humphries, PhD, Accelerate Diagnostics, Tucson, AZ, USA

Predictor of Response to PARP Inhibitors
Elizabeth M. Swisher, MD, University of Washington, Seattle, WA, USA

Leveraging Personalized Medicine for Diagnosis and Treatment of Pancreatic Cancer
Brian Wolpin, MD, MPH, Dana-Farber Cancer Institute, Boston, MA, USA

G044 - Designing and Implementing NGS Tests for Inherited Disorders – a Practical Framework with Step-by-Step Guidance for Clinical Laboratories
Avni B. Santani, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA

G025 - Verification of Very Small Copy Number Variants (Micro CNVs) Detected on Whole Genome CMA Analysis and Implications for Clinical Reporting
Ulrike P. Kappes, MPH, MD, PhD, Medical College of Wisconsin, Milwaukee, WI, USA

G026 - Two-site Evaluation of a One-tube PCR/CE Assay that Resolves CAG Length Polymorphisms in Exon 1 of the HTT Gene
Sarah Statt, PhD, Asuragen, Austin, TX, USA

G021 - Brazilian Panorama of Whole Exome: Details of 315 Cases
Roberta Sitnik, PhD, Hospital Israelita Albert Einstein, São Paulo, Brazil

H025 - Ultradeep Error Corrected Next-generation Sequencing (NGS) of ABL1 Kinase Domain Mutations in BCR-ABL1 Positive Malignancies
Nikhil Patkar, MD, Tata Memorial Center, Mumbai, Maharashtra, India

H041 -  Longitudinal Monitoring of AML Tumors with High-throughput Single-Cell DNA Sequencing Reveals Rare Clones Prognostic for Disease Progression and Therapy Response
Dennis J. Eastburn, PhD, Mission Bio, Inc., South San Francisco, CA, USA

H014 - Mate Pair Sequencing: Ushering Cytogenetics Into the Era of Personalized Medicine
Nicole Hoppman, PhD, Mayo Clinic, Rochester, MN, USA

H039 - Donor-derived Clonal Hematopoiesis of Indeterminant Potential Mutations are Detected in Transplant Recipients after Allogeneic Hematopoietic Stem Cell Transplant
Jennifer Dunlap, MD, Oregon Health & Science University, Portland, OR, USA

ID004 - Evaluation of a Novel Isothermal Amplification Assay for Detection and Genotyping of Human Papillomavirus in Formalin-fixed Paraffin-embedded Tissue of Oropharyngeal Carcinomas
Yi-Wei Tang, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

ID012 - Comprehensive Solid Tumor Microbiome Profiling via Analysis of Unmapped Reads in Large Panel, Hybridization Capture-based NGS Assay Data
Chad M. Vanderbilt, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

ID063 - A Quantitative, Multiplexed RNA Detection Platform for Rapid Pathogen Identification and Phenotypic Antibiotic Susceptibility Testing (AST) using NanoString(™) Technology
Roby P. Bhattacharyya, MD, PhD, Broad Institute, Cambridge, MA, USA
Massachusetts General Hospital, Boston, MA, USA

ID007 - The Diagnostic Yield of Universal Pathogen Detection by Next-Generation Sequencing Compared to the Standard of Care in Patients with Pneumonia
Brittany A. Young, MD, PhD, University of Utah, Salt Lake City, UT, USA

I025 - Identification of Viral Integration Sites in Cancer Genomes using Unmapped Reads in Targeted Next-Generation Sequencing Data
Anita S. Bowman, MS, Memorial Sloan Kettering Cancer Center, New York, NY, USA

I027 - Detection of Microsatellite Instability Using a Large Next-generation Sequencing Panel Across Diverse Tumor Types
Susan J. Hsiao, MD, PhD, Columbia University Medical Center, New York, NY, USA

I009 - Personalized Transcriptomic Drug Profiling in Non-small Cell Lung Cancer
Zachary Abrams, PhD, The Ohio State University, Athens, OH, USA

I034 - Assessing Cancer Diagnosis From Clinical Genomics Data Using Machine Learning
Paul R. Hess, MD, PHD, University of Pennsylvania, Philadelphia, PA, USA

ST002 - Analysis of Urinary Cell-free DNA for Early Detection and Surveillance of Bladder Cancer
Jonathan Dudley, MD, Stanford University, Stanford, CA, USA

ST055 - DNA Sequencing of Human, Epstein-Barr Virus, and Helicobacter Pylori Genomes to Classify and Monitor Gastric Adenocarcinoma
Margaret L. Gulley, MD, University of North Carolina, Chapel Hill, NC, USA

ST107 - Clinical Validation of MSK-ACCESS: An Ultrasensitive Next-generation Sequencing Assay for Liquid Biopsies in the Clinic
A. Rose Brannon, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

ST144 - Prognosis Determined by Tumor Mutational Burden (TMB) Using Whole Exome Sequencing (WES)
Evan Fernandez, MS, Weill Cornell Medicine, New York, NY, USA

Microbiome Changes with Infectious Complications During Stem Cell Transplantation
Ying Taur, MD, MPH, Memorial Sloan Kettering Cancer Center, New York, NY, USA

The Intestinal Virome: From Chronic Inflammation to Bacteriophage Therapy Targeting Multidrug Resistant Bacteria
Breck A. Duerkop, PhD, University of Colorado School of Medicine, Aurora, CO, USA

CRISPR/Cas9 Targeting and Inactivation of Viral DNA Genomes
Bryan R. Cullen, PhD, Duke University Medical Center, Durham, NC, USA

Programmable RNA-targeting CRISPR-Cas Enzymes for RNA Detection and Therapeutics
Mitchell R. O'Connell, PhD, University of Rochester, Rochester, NY, USA

Robert L. Nussbaum, MD, Invitae Corporation, San Francisco, CA, USA

Wayne W. Grody, MD, PhD, University of California, Los Angeles, CA, USA

"In Silico" Proficiency Testing
John D. Pfeifer, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA

Christina Lockwood, PhD, University of Washington, Seattle, WA, USA

Christopher D. Gocke, MD, Johns Hopkins University, Baltimore, MD, USA

Thomas W. Prior, PhD, Case Western Reserve University, Cleveland, OH, USA

Jeremy Segal, MD, PhD, University of Chicago, Chicago, IL, USA

Dara Aisner, MD, PhD, University of Colorado, Denver, CO, USA

Identification of a Rare Germline POT1 Mutation by Targeted Next-Generation Sequencing of a Splenic Marginal Zone Lymphoma
Audrey Jajosky, MD, PhD, University Hospitals Cleveland Medical Center, Cleveland, OH, USA

Identification of Acute Leukemia Risk Mutations in a Child with Severe Congenital Neutropenia
Jennifer Yoest, MD, Washington University School of Medicine in St. Louis, St. Louis, MO, USA              

Whole Genome Sequencing Identifies Cryptic High-Risk Cytogenetic Findings In A Patient With Acute Myeloid Leukemia
Michael Alberti, MD, PhD, Washington University School of Medicine in St. Louis, St. Louis, MO, USA

A Case of Myeloid Neoplasm with Germline Predisposition: Connecting the Clinical, Laboratory, Morphology and Molecular Dots
Fatima Zahra Jelloul, MD, MD Anderson Cancer Center, Houston, TX, USA

TT074 - Multi-Patient Longitudinal Monitoring of Cancer Mutations from Circulating DNA of Using Personalized Single Color Digital PCR Assays
Christina M. Bouwens, Stanford University, Stanford, CA, USA

TT059 - Cell-free DNA Allograft Rejection Monitoring Using Low-coverage Whole Genome Sequencing
Niklas Krumm, MD, PhD, University of Washington, Seattle, WA, USA

TT070 - Universal Design and Rapid PCR for Genotyping by High Resolution Melting
Jessica Houskeeper, MRes , University of Utah, Salt Lake City, UT, USA

TT046 - The NIH Genetic Testing Registry (GTR): Test Methodologies as a Sensor of the Precision Medicine Environment
Adriana Malheiro, MS, National Center for Biotechnology Information, NIH, Bethesda, MD, USA

Opportunities and Challenges in Laboratory Stewardship: Leaders Apply Here
Gary Procop, MD, Cleveland Clinic, Cleveland, OH, USA

Artificial Intelligence in Cancer Genomics and Therapy
Olivier Elemento, PhD, Weill Cornell Medicine - Englander Institute for Precision Medicine, New York, NY, USA

Probabilistic Graphical Models for Integrative Analysis of Pathomics Data
Panagiotis Benos, PhD, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

Clinical Applications of Digital PCR
Maria Arcila, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

Mark Routbort, MD, PhD, University of Texas MD Anderson Cancer Center, Houston, TX, USA

Cancer Genomics Visualization across Scales: Nucleotides to Cohorts
Nils Gehlenborg, PhD, Harvard Medical School, Boston, MA, USA

Data Commons for Precision Cancer Medicine
Ethan Cerami, PhD, Dana-Farber Cancer Institute, Boston, MA, USA

The Role of Enterovirus D68 in Acute Flaccid Myelitis
Kevin Messacar, MD, University of Colorado/Children's Hospital Colorado, Aurora, CO, USA

Epidemiology, Surveillance, and Diagnosis of Enterovirus D68
Samuel Dominguez, MD, PhD, University of Colorado/Children's Hospital Colorado, Aurora, CO, USA

Innovations and Transitions in ABMGG's Continuing Certification Program
Cecily P. Marroquin, American Board of Medical Genetics & Genomics, Rockville, MD, USA

Fellowship Training and Continuing Certification in Molecular Pathology
Karen L. Kaul, MD, PhD, NorthShore University Health System, Evanston, IL, USA

Sarah P. Farrell, PhD

AMP Guidelines for Validating Next Generation Sequencing Bioinformatics Pipelines
Somak Roy, MD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

Alexis B. Carter, MD, Children's Healthcare of Atlanta, Atlanta, GA, USA

Eric H. Bernicker MD, Houston Methodist Hospital, Houston, TX, USA

Christina Lockwood, PhD, University of Washington, Seattle, WA, USA

Lynette M. Sholl, MD, Brigham & Women's Hospital, Boston, MA, USA USA

Don Stranathan, Lung Cancer Survivor/Advocate, Santa Rosa, CA, USA

Resistance to Targeted Therapies in Chronic Lymphocytic Leukemia
Jennifer A. Woyach, MD, The Ohio State University, Columbus, OH, USA

Christopher E. Mason, PhD, Weill Cornell Medicine, New York, NY, USA

Clinical Implications of Mutational Load and Signatures on Replication Repair Deficiency in Cancer
Uri Tabori, MD, PhD, Hospital for Sick Children, Toronto, Ontario, Canada

Hypermutation in Cancer: Burden and Signatures of Mutational Processes
Ahmet Zehir, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA