Thursday, November 1, 2018 |
|
SCIENTIFIC INFORMATION |
|
7:00am - 8:00am |
EARLY BIRD SESSIONSFinding the "Indel" in the HaystackLarge Indel Detection in Clinical NGS Assays Case Studies in Genetics & InformaticsOccurrence 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 Sex Check: Verifying Patient Sex Based on Off-Panel SNPs on the X Chromosome A Discrepancy Between the Human Reference Genome (GRCh37) and Transcriptome (RefSeq) Results in the Incorrect Annotation of a Clinically-Relevant Sequence Variant in RECQL4 |
8:30am - 9:45am |
AMP Award for Excellence in Molecular Diagnostics: Presentation and LectureReimagining Healthcare: Next Generation DNA Sequencing to Ultrasound-on-a-ChipJonathan Rothberg, PhD, Founder, Chairman, and CEO of Butterfly Network, Inc., Guilford, CT, USA |
10:15am - 11:45am |
PLENARY SESSIONLife Starts with DNA: Sequencing of the Baby GenomeNewborn Genomic Sequencing for Diagnosis and Screening The Babyseq Project: A Study of Newborn Genomic Sequencing |
1:00pm - 2:30pm |
CONCURRENT WORKSHOPSCutting Edge Informatics Infrastructure for Personalized MedicineLeveraging Computer Infrastructure to Scale Clinical Bioinformatics The Data Estate
Gil Alterovitz, PhD, Boston Children's Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA
Molecular Tumor BoardElizabeth 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 |
|
SCIENTIFIC INFORMATION |
|
7:00am - 8:00am |
EARLY BIRD SESSIONSKeys to Publishing in Scientific JournalsBarbara A. Zehnbauer, PhD, Emory University School of Medicine, Atlanta, GA, USA Conceptual Nuts and Bolts of Visualizing Big Data in GenomicsVisualizations 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 ConfirmationKristy Crooks, PhD, University of Colorado, Denver, CO, USA |
10:45am - 11:45am |
CONCURRENT WORKSHOPS:Platform Presentations of Selected Abstracts Abstracts are selected by the Program Committees Platform Presentations of Selected Informatics AbstractsI025 - Identification of Viral Integration Sites in Cancer Genomes using Unmapped Reads in Targeted Next-Generation Sequencing Data I027 - Detection of Microsatellite Instability Using a Large Next-generation Sequencing Panel Across Diverse Tumor Types I009 - Personalized Transcriptomic Drug Profiling in Non-small Cell Lung Cancer I034 - Assessing Cancer Diagnosis From Clinical Genomics Data Using Machine Learning |
3:30pm - 5:00pm |
CONCURRENT SYMPOSIAClinical Advances in NGSRobert 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 |
|
SCIENTIFIC INFORMATION |
|
7:00am - 8:00am |
EARLY BIRD SESSIONSAMP Guidance for Non-standard or Emerging NGS Applications: Liquid BiopsyChristina Lockwood, PhD, University of Washington, Seattle, WA, USA |
8:15am - 9:45am |
PLENARY SESSIONArtificial Intelligence in Genomic MedicineArtificial Intelligence in Cancer Genomics and Therapy Probabilistic Graphical Models for Integrative Analysis of Pathomics Data |
10:45am - 12:15pm |
WORKSHOPSShow Me the Data: Visualization At the Interface of Molecular Pathology and Patient CareCancer Genomics Visualization across Scales: Nucleotides to Cohorts Data Commons for Precision Cancer Medicine Best Practices for Clinical Validation of NGS Bioinformatics PipelineAMP Guidelines for Validating Next Generation Sequencing Bioinformatics Pipelines Alexis B. Carter, MD, Children's Healthcare of Atlanta, Atlanta, GA, USA |
3:15pm - 4:45pm |
PLENARY SESSIONHypermutation and Mutation Signature Detection in CancerClinical Implications of Mutational Load and Signatures on Replication Repair Deficiency in Cancer Hypermutation in Cancer: Burden and Signatures of Mutational Processes |