Informatics

Eric Duncavage, MD, Washington University, Saint Louis, MO, USA

Justin Zook, PhD, National Inst of Standards & Tech, Gaithersburg, MD, USA

Using Polygenic Risk Scores (PRS) for Breast Cancer to Inform Screening: Model Fit, Calibration, and Utility

Peter Kraft, PhD, Harvard T.H. Chan School of Public Health, Boston, MA, USA

Malachi Griffith, PhD, Washington University School of Medicine, St. Louis, MO, USA

Patterns of Complex Structural Variation across Thousands of Cancer Whole Genomes

Marcin Imielinski, MD, PhD, Weill Cornell Medical College, New York, NY, USA

Identification and Characterization of Cryptic Structural Variation in Human Genomes

Ryan Mills, PhD, University of Michigan, Ann Arbor, MI, USA

Do-It-Yourself Molecular LIMS

Long P. Le, MD, PhD, Massachusetts General Hospital, Charlestown, MA, USA

 

Kristina Cusmano-Ozog, MD, Children’s National, Palo Alto, CA, USA

Development of a Laboratory Information System to Support Clinical NGS Testing

Michael Kluk, MD, PhD, Weill Cornell Medicine, New York, NY, USA

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

Barriers to Integrating Genomics More Fully into the EHR

Brian Shirts, MD, PhD, University of Washington, Seattle, WA, USA

RNA-seq for the Detection of Gene Fusions and Other Alterations in Cancer

Kevin Halling, MD, PhD, Mayo Clinic, Rochester, MN, USA

Applications of RNA-Seq in Cancer

Olena Vaske, PhD, FCCMG, University of California, Santa Cruz, CA, USA

James Versalovic, MD, PhD, Texas Children's Hospital, Houston, TX, USA

Kevin Halling, MD, PhD, Mayo Clinic, Rochester, MN, USA

Stephen Lincoln, Invitae, San Francisco, CA, USA

Alexander L. Greninger, MD, PhD, MS, MPhil, University of Washington, Seattle, WA, USA

Samia Naccache, PhD, LabCorp, Seattle, WA, USA

H034 - Identification of Neoplastic Clonal T-cell Sequences in Unrelated Healthy Individuals: Limitations of High Throughput TRG Sequencing for Minimal Residual Disease (MRD) Analysis

Siddhartha Sen, MD, PhD, Duke University Medical Center, Durham, NC, USA

H039 - Measurable Residual Disease Monitoring for Patients with Acute Myeloid Leukemia Following Hematopoietic Cell Transplantation Using Error Corrected Hybrid Capture Next Generation Sequencing

Vidya Balagopal, PhD, University of Chicago, Chicago, IL, USA

H021 - IGH locus assessment using hybrid-capture, a proof-of-concept study

Etienne Mahe, MD, MSc, FRCPC, FCAP, University of Calgary, Calgary, Alberta, Canada

H027 - Convergence on Genomic Abrogation of the DNA Damage Response Pathway in CLL is Observed in Patients with Loss of18p

Waihay Wong, Brigham and Women's Hospital and Harvard Medical School

H020 - IDH1 p.S280F mutation is potentially a novel mechanism of resistance to Ivosidenib therapy in an IDH1 positive acute myeloid leukemia

Zoltan Oltvai, MD, University of Pittsburgh, Pittsburgh, PA, USA

I031 - 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

Panel Discussion

Charles Duan, JD, The R Street Institute, Washington, DC, USA
Robert Nussbaum, MD, Invitae, San Francisco, CA, USA
Sandra Park, JD, American Civil Liberties Union, New York, NY, USA
Hans Sauer, JD, Biotechnology Innovation Organization, Washington, DC, USA