Informatics

Thursday, November 16, 2017

SCIENTIFIC INFORMATION

7:00am - 8:00am

EARLY BIRD SESSIONS

Standardization of Projects in Pharmacogenetics

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

The Utah Genome Project

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

Molecular Diagnostics for Biomarker-Driven Clinical Trials

The Challenges of Development and Application of the NCI-MATCH NGS Assay

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

1:00pm - 2:30pm

CONCURRENT WORKSHOPS

MRD Assessment in Acute Leukemias

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

Next-generation Sequencing for Detecting MRD in Acute Lymphoblastic Leukemia

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

Pharmacogenomics Implementation

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

Bioinformatic Frontiers: Dissecting the Genetics of Cancer

Computational Dissection of Intra-tumor Genetic Heterogeneity and Applications to the Study of Cancer Treatment, Evolution, and Metastasis

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

 

Friday, November 17, 2017

SCIENTIFIC INFORMATION

7:00am - 8:00am

EARLY BIRD SESSIONS

Data Visualization

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

New Tools for Detecting Low Frequency Variants Applications in Hematopoietic Neoplasms

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

8:15am - 9:45am

INFORMATICS PLENARY SESSION

Molecular Informatics at Scale for Genomics-based Personalized Cancer Care

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

10:45am - 11:45am

CONCURRENT WORKSHOPS:

Platform Presentations of Selected Abstracts

Abstracts are selected by the Program Committee

Platform Presentations of Selected Informatics Abstracts

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

 

 

Saturday, November 18, 2017

SCIENTIFIC INFORMATION

7:00am - 8:00am

EARLY BIRD SESSIONS

AMP Bioinformatics Pipeline Validation Working Group
(Sponsored by the Clinical Practices Committee)

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

Case Studies in Hemepath and Informatics

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

10:45am - 12:15pm

CONCURRENT WORKSHOPS

Crowd-sourcing the Expert Curation of Germline and Somatic Variants: CIViC, ClinGen and Clinvar

ClinGen and ClinVar: Building Resources to Support Gene and Variant Interpretation

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

CIViC: A Curation Portal and Knowledgebase for Cancer Variant Interpretation

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