Informatics

AMP CYP2C19 PGx Variant Standardization Project
Victoria M. Pratt, PhD, Indiana University, Indianapolis, IN, USA

PGx  Standardization Project
Steven A. Schichmann, MD, PhD, John L. McClellan Memorial Veterans Hospital, Little Rock, AR, USA

Utah Genome Project: Genetic Discovery Powered by Utah's Large Families and Population Database
Deborah Neklason, PhD, University of Utah, Salt Lake City, UT, USA

P. Mickey Williams, PhD, Frederick National Labs, Frederick, MD, USA

Pediatric Clinical Trial Networks, Pathologist's Perspective
Marian H. Harris, MD, PhD, Boston Children's Hospital, Boston, MA, USA

A Clinical Trial to Improve Risk Assessment in Acute Myeloid Leukemia that Uses Enhanced Exome Sequencing to Detect Leukemia Clearance Following Therapy
David H. Spencer, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA

David Wu, MD, PhD, University of Washington, Seattle, WA, USA

Clinical Implementation of Pharmacogenomics: From Reactive Testing to Preemptive Testing
Ann M. Moyer, MD, PhD, Mayo Clinic, Rochester, MN, USA

Implementing and Assessing Outcomes with Genotype-Guided Therapy
Larisa H. Cavallari, PharmD, University of Florida, College of Pharmacy, Gainesville, FL, USA

Scott L. Carter, PhD, Dana-Farber Cancer Institute, Boston, MA, USA

Strategies and Challenges for Somatic Mutation Detection by Next-gen Sequencing
Daniel C. Koboldt, MSc, Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA

Enabling Scientific Discovery Through Interactive Visual Data Analysis
Alexander Lex, PhD, University of Utah, Salt Lake City, UT, USA

Single Molecule Quantification of Rare DNA and RNA Variants in Heterogeneous Samples
Todd E. Druley, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA

Molecular Pathology Informatics - Toolsets and Infrastructures for Supporting Clinical Trials
Mark Routbort, MD, PhD, University of Texas MD Anderson Cancer Center, Houston, TX, USA

Interpreting the Cancer Genome: Identifying Driver Alterations and Therapeutic Options
Nikolaus Schultz, PhD, Memorial Sloan Kettering Cancer Center, New York, NY, USA

I06 - A New Allele-centric VCF File for Variants in ClinVar
Melissa J. Landrum, PhD, National Center for Biotechnology, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA

I16 - Homopolymer Compression Improves Reference-Free, Kmer Based Whole Genome Strain Comparison for IonTorrent Data
Keith E. Simmon, PhD, ARUP Laboratories, Salt Lake City, UT, USA

I20 - Redesigning the Molecular Pathology Clinical Report for the Next-generation Genomic Era: The MSKCC Experience with the MSK-IMPACT Assay
Aijazuddin Syed, MSc, Memorial Sloan Kettering Cancer Center, New York, NY, USA

I28 - An Interlaboratory Assessment of Complex Variant Detection Using Multiplexed Positive Controls
Stephen Lincoln, Invitae, San Francisco, CA, USA

AMP Bioinformatics Pipeline Validation Working Group: Development of Guidelines
Somak Roy, MD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

New AMP Guidelines on Validating Next Generation Sequencing Bioinformatics Pipelines
Alexis B. Carter, MD, Children's Healthcare of Atlanta, Atlanta, GA, USA

Inv(16) Incidentally Detected by Leukemia Translocation Panel Screen in a Patient with Therapy-related Acute Myeloid Leukemia
Andres E. Quesada, MD, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA

A Confounding Case of Polycythemia Vera
Aaron Atkinson, PhD, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA

Identifying Patients at Risk for Myelodysplastic Syndrome through Next Generation Sequencing of Cytopenias with Equivocal or Absent Morphologic Dysplasia
Patrick Mann, MD, Washington University, St. Louis, MO, USA

Detection of the Controversial ASXL1 c.1934dupG (p.G646Wfs*12) Insertion Variant From Targeted Next-generation Sequencing (NGS) Data
Michael Alberti, MD, PhD, Washington University, St. Louis, MO, USA

Heidi L. Rehm, PhD, Harvard Medical School, Boston, MA, USA

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