Thursday, November 1, 2018


7:00am - 8:00am


Finding the "Indel" in the Haystack

Large Indel Detection in Clinical NGS Assays
Sabah Kadri, PhD, University of Chicago, Chicago, IL, USA

Case Studies in Genetics & Informatics

Occurrence of Medulloblastoma in a Patient with Curry-Jones Syndrome

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

8:30am - 9:45am

AMP Award for Excellence in Molecular Diagnostics: Presentation and Lecture

Reimagining Healthcare: Next Generation DNA Sequencing to Ultrasound-on-a-Chip

Jonathan Rothberg, PhD, Founder, Chairman, and CEO of Butterfly Network, Inc., Guilford, CT, USA

10:15am - 11:45am


Life Starts with DNA: Sequencing of the Baby Genome

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

1:00pm - 2:30pm


Cutting Edge Informatics Infrastructure for Personalized Medicine

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

The Data Estate
Gil Alterovitz, PhD, Boston Children's Hospital, Boston, MA, USA
Harvard Medical School, Boston, MA, USA

Molecular Tumor Board

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


Friday, November 2, 2018


7:00am - 8:00am


Keys to Publishing in Scientific Journals

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

Conceptual Nuts and Bolts of Visualizing Big Data in Genomics

Visualizations for Genomic Data, the GTEx Experience
Jared L. Nedzel, Broad Institute, Cambridge, MA, USA
Katherine Huang, Broad Institute, Cambridge, MA, USA

AMP Guidance/Standards for NGS Germline Variant Confirmation

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

10:45am - 11:45am


Platform Presentations of Selected Abstracts

Abstracts are selected by the Program Committees

Platform Presentations of Selected Informatics Abstracts

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

3:30pm - 5:00pm


Clinical Advances in NGS

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

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


Saturday, November 3, 2018


7:00am - 8:00am


AMP Guidance for Non-standard or Emerging NGS Applications: Liquid Biopsy

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

8:15am - 9:45am


Artificial Intelligence in Genomic Medicine

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

10:45am - 12:15pm


Show Me the Data: Visualization At the Interface of Molecular Pathology and Patient Care

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

Best Practices for Clinical Validation of NGS Bioinformatics Pipeline

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

3:15pm - 4:45pm


Hypermutation and Mutation Signature Detection in Cancer

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