2022 Scientific Program

Thank You for Attending CGC 2022! 


Sunday, July 31, 2022

Pre-Meeting Workshops

9:00 - 10:30 AM

Bioinformatics Workshop: Exploring OpenCravat as a Platform to Assess Genomic Variants 

Moderators: Deb Ritter, Texas Children's Hospital and Baylor College of Medicine, and 
Alex Wagner, Nationwide Children's Hospital

Presenter: Rachel Karchin, Johns Hopkins University

10:30 - 10:45 AM

Coffee Break for Workshop Attendees

10:45 AM - 12:15 PM

Case-Based Workshop: Assessment of Genomic Changes in Clinical Cases: Things to Think About and How We Approached Them

Moderator: Teresa Smolarek, Cincinnati Children‘s Hospital Medical Center and 
Annie Garcia, University of Washington, Seattle 


Constitutional: Teresa Smolarek, Cincinnati Children‘s Hospital Medical Center 

Prenatal: Elizabeth McCready, McMaster University  

Leukemia: Gordana Raca, Children‘s Hospital Los Angeles, Keck School of Medicine of USC 

Solid Tumor: Annie Garcia, University of Washington, Seattle 

Opening of the 13th Annual Cancer Genomics Consortium
1:00 - 1:05 PM

Obi Griffith, McDonnell Genome Institute and Washington University School of Medicine

1:05 - 1:15 PM

Presidential Address
Patricia M. Miron,
UMass Memorial Medical Center and Quest Diagnostics

1:15 - 2:20 PM

Session 1: Integrating Novel Genomic Alterations for Pathologic Classification and Clinical Risk Assessment in Pediatric and Adult Leukemias
Moderators: Jane Houldsworth, Icahn School of Medicine at Mount Sinai Medical Center, and 
Panieh Terraf, Memorial Sloan Kettering Cancer Center

Microdeletion 13q12.2 in B Cell Acute Lymphoblastic Leukemia: Little but Important!
Daynna Wolff, Medical University of South Carolina

Clinical, Cytogenetic and Genomic Profiling of B-Other Acute Lymphoblastic Leukemia: An Indian Cohort study
Dhanlaxmi Shetty, ACTREC, Tata Memorial Centre

Homologous Recombination DNA Repair Deficiency in Hematological Malignancies
Ha Nguyen, MD Anderson Cancer Center-School of Health Professions

Integrated Genetic Risk Assessment in De-novo Acute Myeloid Leukemia in Children and Young Adults
Betsy Hirsch, University of Minnesota Medical School

2:20 - 2:45 PM

Platinum Vendor Showcase: SOPHiA GENETICS
Overcoming Challenges of Somatic RNA Variant Calling in Solid Tumors
Mikhail Pertziger and Miling Wang, SOPHiA GENETICS

(No CME or CEUs available)

2:45 - 3:50 PM

Session 2: Different Approaches to Unraveling the Genomics of Solid Tumors
Moderators: Teresa Smolarek, Cincinnati Children's Hospital Medical Center, and 
Marilena Melas, New York Genome Center

IDH1 R132H, IDH2 R172K and BRAF V600E Mutation Detection by OncoScan CNV Plus in Brain Tumors
Lauren Choate, Mayo Clinic

The Clinical Implications of Polyploidy in Oligodendrogliomas
Ruby (Ching-Hua) Liu, Northwestern Medicine

Technologist Award

Overview of Recurrent and Novel Gene Fusions Detected in a Clinical Diagnostic Laboratory
Paulo Campregher,
Hospital Israelita Albert Einstein

Harnessing the Power of Microarray in the Analysis of Rarer Pediatric Sarcomas
Maxine Sutcliffe,
Johns Hopkins All Children's Hospital/University of South FL

3:50 - 4:30 PM

Coffee Break

4:30 - 5:15 PM

Diamond Vendor Showcase: Illumina
Clinical Validation of Whole Genome Methylation Profiling Classifier for Central Nervous System Tumor
Lucas Santana dos Santos, Northwestern University

(No CME or CEUs available)

5:15 - 5:45 PM

Session 3: Advances in Immunogenomics and Immune Therapies in the Treatment of Cancer
Moderators: Patrick Gonzales, University of Kansas Medical Center

The Dual PI3K Inhibitor Duvelisib Potently Inhibits Cytokine Release Syndrome while Maintaining CAR-T Function
Parmeshwar Amatya, Washington University School of Medicine

HLA Class II Immunogenic Mutation Burden Predicts Response to Immune Checkpoint Blockade
Xiaoshan Shao, Johns Hopkins University
Trainee Award

5:45 - 6:20 PM

Invited Presentation
Federated Analysis for Germline Variant Interpretation
Melissa Cline, University of California, Santa Cruz

6:20 - 6:50 PM

Session 4: Data Systems for Cancer Genome Interpretation  (Lightning Talks)
Moderator: Trevor Pugh, University of Toronto

The Complex Nature of Variant Interactions in Cancer Requires Updates to Variant Interpretation Resources
Kilannin Krysiak, Washington University School of Medicine

Expanding Clinical Actionability in Individual Patient Profiles with the Molecular Oncology Almanac
Brendan Reardon, Dana-Farber Cancer Institute

Implementation of New ClinGen/CGC/VICC Recommendations for Classification of Oncogenicity of Somatic Variants Using AI
Yaron Einhorn, Genoox

Providing More Answers for Patients with Supplemental RNA Analysis
Laure Fresard,

ClinGen Somatic Cancer Expert Curation Panel for FGFR Genes in Genitourinary Cancer
Ian King,
University Health Network and University of Toronto

7:00 - 9:00 PM
Welcome Reception and Poster Viewing
Exhibit Hall

Monday, August 1, 2022

8:00 - 9:00 AM

Session 5: Implementation of New and Emerging Technologies in Oncologic Laboratories for Improving Patient Care   
Moderators: Rashmi Kanagal-Shamanna, MD Anderson Cancer Center and 
Rebecca Smith, Genetics Associates

International Working Group Recommendations for the Implementation of Optical Genome Mapping in Hematologic Malignancies
Adam Smith, University Health Network

Deconvolution of Genetic Heterogeneity in Glioblastoma Using Multi-Region Sampling
Aaron Gillmor, University of Calgary

Cell-Free DNA 5-hydroxymethylcytosine is an Emerging Marker of Acute Myeloid Leukemia
Zejuan Li, Houston Methodist

Personalized ctDNA Micro-Panels Monitor and Predict Clinical Outcomes for Patients with Triple-Negative Breast Cancer
Erica K. Barnell, Washington University School of Medicine

9:00 - 10:00 AM

Keynote Presentation
Advances in Diagnosis and Treatment of Neurofibromatosis 1
Bruce Korf, University of Alabama

10:05 - 10:30 AM

Platinum Vendor Showcase: Oxford Gene Technology
Beyond CNVs: Leveraging SNP Arrays in Cancer
Stephen Moore, Oregon Health and Science University

(No CME or CEUs available)

10:30 - 11:15 AM

Coffee Break

11:15 AM - 12:00 PM

Session 6: Genomic Resources for Data Curation, Variant Interpretation, and Nomenclature Standardization
Moderators: Yang Cao, Washington University School of Medicine, and 
Ying-Chen (Claire) Hou, Washington University School of Medicine

A Unified Framework for Gene Fusion Representation
Alex Wagner,
Nationwide Children's Hospital and the Ohio State University

Translating Human Readable Variation Descriptions to Unique Computable Variations with the Variation Normalizer
Kori Kuzma, Nationwide Children's Hospital

Technologist Award

Reimagining and Enhancing the Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group
Jason Saliba,
Washington University School of Medicine

12:00 - 12:45 PM

Diamond Vendor Showcase: Agilent
High-Resolution Target-Capture DNA Analysis for Suspect Clonal Hematopoiesis
Terra Lasho, Mayo Clinic

(No CME or CEUs available)

12:50 - 1:45 PM

Lunch with Vendors

1:45 - 2:15 PM

Panel Discussion: Clinical Laboratory Staff Shortage Crisis! Engaging the CGC Community for Solutions
Panelists: Yassmine Akkari, Nationwide Children‘s Hospital, 
Liz Spiteri, 
Stanford University and
Brynn Levy, Columbia University

2:15 - 3:15 PM

Session 7: Application of High-Depth and Novel Genomic Testing Methodologies in the Comprehensive Analyses of Vascular Anomalies and Somatic Mosaic Disorders 
Moderators: Avinash Dharmadhikari, Children‘s Hospital Los Angeles, and 
Bahareh Adhami Mojarad, Washington University School of Medicine

Paired Exome Analysis in Mosaic Disease Yields Expanded Genotype-Phenotype Associations
Catherine Cottrell, Nationwide Children's Hospital

Tissue-Based Sequencing for Laboratory Diagnosis of Somatic Mosaic Disorders
Runjun Kumar, Baylor College of Medicine

Genetic Spectrum of RAS alterations - A Highlight of In-Frame Insertion Variants in Association with Vascular Anomalies
Yang Cao, Washington University in St. Louis School of Medicine

Identification of Novel Genomic Structural Variations In Angiosarcoma by Optical Genome Mapping
Thuy Phung, University of South Alabama

3:15 - 3:30 PM

Gold Vendor Showcases
(No CME or CEUs available)

3:30 - 4:00 PM

Invited Presentation
Genome Sequencing in the Diagnosis of Myeloid Malignancies
Molly Schroeder, Washington University in St. Louis

4:00 - 4:40 PM
Coffee Break
4:40 - 5:15 PM

Session 8: Instrumentation and Software Development for the Discovery and Analysis of Cancer Variants (Lightning Talks)
Moderator: Angela M. Lager, University of Chicago

Review and Comparison of the Oncomine Myeloid Assay GX v2 on Genexus System
Celeste Eno, Cedars-Sinai Medical Center

Detection of Small Mutations, Copy Number Alterations and Structural Variations from Targeted cfDNA Sequencing in Cancer
Jace Webster, Washington University in St. Louis

Tools for Functional Genomics Dataset Visualization and Analysis
Arpad Danos, Washington University in St. Louis

Semi-Automated Approaches for Digital Pathology Analyses Standardize Pathologic Assessment of Clinical Melanoma Biopsies
Katie Campbell, University of California, Los Angeles

Automated Fluorescence In Situ Hybridization (FISH) Imaging and Analysis Validation Using BioView Duet-3 System
Patrick R. Gonzales, University of Kansas Medical Center

5:20 - 5:45 PM

Platinum Vendor Showcase: PGDx / Labcorp
Internalizing a Comprehensive Genomic Profiling Solution with a Path to Reimbursement
Ravindra Kolhe, Medical College of Georgia, Augusta University

(No CME or CEUs available)

5:45 - 6:15 PM

Invited Presentation
Next-Generation Curating: When Pathology Meets Bioinformatics
Valérie Barbié, Swiss Institute of Bioinformatics

6:15 - 7:45 PM

Poster Session
Exhibit Hall

7:45 - 9:00 PM

Early Career Social
For attendees in training or recently out of training


Tuesday, August 2, 2022

8:00 - 9:00 AM

Session 9: Advancing Cancer Genetic Testing Through Novel Bioinformatic, Machine Learning, and Clinical Informatic Approaches
Moderators: Kilannin Krysiak, Washington University School of Medicine, and 
W. Bailey Glen, Medical University of South Carolina

Clin-MSI: A Machine Learning-Based Approach to MSI Detection in Endometrial Cancers
Elaine Mardis, Nationwide Children's Hospital

Computational Prediction of MHC Anchor Locations Guide Neoantigen Identification and Prioritization
Huiming Xia, Washington University in St. Louis

Trainee Award

Discovery of Circular RNAs Through Integration of Short- and Long-Read RNA Sequencing
Sidi Zhao, Washington University in St. Louis

The Development, Testing, and Validation of an Automatic LIMS Import Method for NGS Myeloid Panel Results
Rebecca Smith, Genetics Associates, Inc.

9:05 - 9:30 AM

Platinum Vendor Showcase: BostonGene
Nathan Fowler, MD Anderson Cancer Center

(No CME or CEUs available)

9:30 - 10:30 AM

Keynote Presentation
Using Genomics to Build Better Cancer Vaccines
Catherine Wu, Dana-Farber Cancer Institute

10:30 - 11:15 AM


Coffee Break

11:15 AM - 12:15 PM

Session 10: What is New in Genomics of Solid Tumors?
Moderators: Thuy Phung, University of South Alabama, and 
Meenakshi Mehrotra, Icahn School of Medicine at Mount Sinai Medical Center

Clinical Utility of Copy Number Alteration Analysis in the Evaluation of Melanocytic Lesions for Diagnosis and Prognosis
Cynthia Reyes Barron, Pathology Professional Services

Epigenetic Reprogramming of Brain Development Pathways During Non-Small Cell Lung Cancer Metastasis to Brain
Jennifer Karlow, Dana-Farber Cancer Institute

Trainee Award

Who's Driving Treatment? Two Co-Occurring Driver Mutations in Primary Lung Adenocarcinoma
Danielle Salari, Atrium Health

Technologist Award

Associations Between Somatically Altered Genes and Recurrence Outcomes in Estrogen Receptor Positive Breast Cancer
Meenakshi Anurag, Baylor College of Medicine

12:15 - 12:45 PM

Invited Presentation
Long Molecule Footprints of Complex Cancer Genome Structure
Marcin Imielinski, New York Genome Institute

12:50 - 2:00 PM

Round Table Discussions with Lunch
Please sign up for table topics during conference registration.

2:00 - 2:30 PM

Invited Presentation
Genetic Ancestry, Somatic Alteration and Outcome
Jian Carrot-Zhang, Memorial Sloan-Kettering Cancer Center

2:35 - 3:00 PM

Platinum Vendor Showcase: Thermo Fisher Scientific
SNP Array Analysis of Borderline Melanocytic Tumors
Katherine Geiersbach, Mayo Clinic

(No CME or CEUs available)

3:00 - 4:00 PM

Session 11: Expanded Horizons in Hematologic Malignancies: Clonal Behaviors and Novel Genomic Approaches
Moderators: Celeste Eno, Cedars-Sinai Medical Center, and 
Casey Brewer, Cincinnati Children's Hospital Medical Center

Clonal Evolution of Cutaneous T Cell Lymphoma (CTCL) Revealed at Single Cell Resolution
Jacqueline Payton,
Washington University School of Medicine

Characterizing Expression Profiles of Hodgkin and Follicular Lymphoma Using Single Nuclei RNA Sequencing 
Felicia Gomez, Washington University School of Medicine

Optical Genome Mapping and 523-Gene Sequencing Panel for Comprehensive Genomic Evaluation of Myeloid Cancers
Nikhil Sahajpal, Augusta University

Association Between Clonal Hematopoiesis and Inherited Cancer Susceptibility Genes
Jie Liu, Washington University School of Medicine

4:00 - 4:45 PM

Coffee Break

4:45 - 5:30 PM

Diamond Vendor Showcase: Bionano Genomics
Optical Genome Mapping and its Integration with NGS for Clinical Research in Leukemia and Lymphoma

Moderator: Alka Chaubey, Bionano Genomics
Panelists: Ravindra Kolhe, Augusta University
Yassmine Akkari, Nationwide Children's Hospital
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center
Brynn Levy, Columbia University Medical Center and New York - Presbyterian Hospital

(No CME or CEUs available)

5:30 - 6:00 PM

Session 12: Biomarker Discovery and Reporting (Lightning Talks)
Moderator: Alex Wagner, Nationwide Children's Hospital

An International Landscape of Cancer NGS Reporting Practices
Beth Pitel, Mayo Clinic

Deconstruction of Pancreatic Ductal Adenocarcinoma Identifies Survival-Associated Tumor Microenvironmental Communities
Erik Storrs, Washington University School of Medicine

Data Driven Refinement of Gene Signatures for Enrichment Analysis and Cell State Characterization
Alexander Wenzel,
University of California, San Diego

A Symbolic Regression Approach to Hepatocellular Carcinoma Diagnosis Using Circulating Cell-Free DNA
Rushank Goyal, Betsos

Refining the Drug-Gene Interaction Database for Precision Medicine
Matthew Cannon,
Nationwide Children's Hospital

6:45 - 9:00 PM
Optional After Hours Social Activities

Wednesday, August 3, 2022

8:30 - 9:00 AM

Session 13: Technical Challenges in Genomic Testing
Moderators: Amanda Fortier Sussman, University of Texas MD Anderson Cancer Center


Reduced Performance of Centromere 15 Probe in Association with African Ancestry
Linda Baughn, Mayo Clinic

Molecular Profiling of Cytolyt-Fixed FNA Washes to Improve Diagnostic Yield in Lung Cancer
Meenakshi Mehrotra, Mount Sinai Health System

9:00 - 9:20 AM

CGC Program Updates

9:20 - 9:45 AM

Platinum Vendor Showcase: Invitae
Microsatellite Instability Detection with Anchored Multiplex PCR
Amber Carter, Invitae

(No CME or CEUs available)

9:45 - 10:45 AM

Keynote Presentation
Discovering New Biology and Function in Complete, Telomere-to-Telomere (T2T) Genomes
Karen Miga, University of California, Santa Cruz

10:45 - 11:30 AM

Coffee Break

11:35 AM - 12:00 PM

Platinum Vendor Showcase: Roche Sequencing
Evaluation of the AVENIO Tumor Tissue Comprehensive Genomic Profiling (CGP) Kit
Stephanie Yuang, Roche Sequencing Solutions

(No CME or CEUs available)

12:00 - 12:30 PM

Invited Presentation
What‘s MDUFA got to do with it? Update on the Regulation of LDTs mid 2022
Eric Konnick, University of Washington

12:30 - 1:00 PM

CGC 2022 Business Meeting