Cancer Genomics Consortium 14th Annual Meeting 
August 13 - 16, 2023
Hyatt Regency St. Louis at the Arch, St. Louis, Missouri

Download the CGC 2023 Scientific Agenda

Pre-Meeting Workshops

9:00 - 10:30 AM

Bioinformatics Workshop: Exploring the Clinical Interpretation Resource Landscape

Coffee Break for Workshop Attendees

10:45 AM - 12:15 PM

Case-Based Workshop: Assessment of the Genomic Changes in Clinical Cases

Opening of the 14th Annual Cancer Genomics Consortium

1:00 - 1:05 PM

Welcome
Rashmi Kanagal-Shamanna, MD Anderson Cancer Center

1:05 - 1:15 PM

Presidential Address
Obi Griffith, Washington University School of Medicine

1:15 - 2:15 PM

Keynote Presentation
John DiPersio, Washington University School of Medicine

2:15 - 3:15 PM

Session 1: Applications of Emerging Technologies in Clinical Genomics 1

TBD

Application of optical genome mapping to identify samples with homologous recombination deficiency
Alex Hastie, Bionano Laboratories

Clinical Validation of Plasma Whole Genome Sequencing for Detection of Minimal Residual Disease from Solid Tumours
Felix Beaudry, Ontario Institute for Cancer Research

Comprehensive next generation cytogenomics improves risk stratification of Acute Myeloid Leukemia
Stephen Eacker, Phase Genomics

3:15 - 4:00 PM

Coffee Break

Invited Speaker Presentation
Robert Hasserjian, Mass General Brigham

Session 2: Bioinformatics, Artificial Intelligence, Machine-Learning 1

Overcoming challenges in semantic alignment of therapeutics knowledge using TheraPy
James Stevenson, Nationwide Children's Hospital
Technologist Award

Tracking Immunotherapy Response with Single Cell T Cell Receptor Profiling in Canine Models of Cancer
Obi Griffith, Washington University School of Medicine

AI-Based Algorithms for Neoplastic Metaphase Cells Boost Efficiencies in the Cytogenetics Laboratory
Bo Hong, ARUP Laboratories

Mapping variants from multiplex assays of variant effect (MAVEs) to human reference sequences
Jeremy Arbesfeld, The Ohio State University
Trainee Award

Speed Abstracts Session I

Evaluation of Hi-C versus Optical Genome Mapping for Diagnosing Constitutional Genomic Structural Variants
He Fang, University of Washington

Personalized sequencing assays for cerebrospinal fluid liquid biopsies in children with brain tumors
Katherine Miller, Nationwide Children's Hospital

HPV forms chimeric virus-human transcripts that affect host gene expression in cervical tumors
Kay Jayachandran, Washington University School of Medicine

Concurrent Systemic Mastocytosis and T-Lymphoblastic Lymphoma Unified by a Novel Cryptic JAKMIP2::PDGFRB Rearrangement
Kevin Shopsowitz, University of British Columbia 

Loss of MSH2 and MSH6 is frequently observed in prostate neoplasms with mismatch repair deficiency
Gokce Torunner, MD Anderson Cancer Center

Platinum Vendor Showcase 

(No CME or CEUs available)

Diamond Vendor Showcase

(No CME or CEUs available)

Platinum Vendor Showcase 

(No CME or CEUs available)

Session 3: Genomic resources for variant curation and standardization

ClinGen Cancer Variant Interpretation (CVI) Committee: Pilot Guidance for Somatic Cancer Variant Curation Expert Panels
Deborah Ritter, Baylor College of Medicine

Djerba: A Modular System to Generate Clinical Genome Interpretation Reports for Cancer
Iain Bancarz, Ontario Institute for Cancer Research

Investigation of pathogenic and truncated variants of RUNX1 and DDX41 in All of Us
Huan Mo, National Human Genome Research Institute

Developing a generalized model for variants in CIViC
Arpad Danos, Washington University School of Medicine

Keynote Presentation
Olufunmilayo Olapade, University of Chicago

10:00 - 10:45 AM

Coffee Break

Session 4: Solid Tumors 1

Comparative analysis of RNA expression identifies druggable targets in difficult-to-treat pediatric solid tumors
Yvonne Vasquez, University of California, Santa Cruz

Comprehensive 'Omic' Profiling Reveals 'Atypical Oligodendrogliomas' which Challenge CNS Diagnostic Classification
Adrian Dubuc, Brigham and Women's Hospital

Cell-free DNA genomic and epigenomic analysis to predict survival in mCRPC patients treated with AR-directed therapy
Pradeep Chauhan, Washington University School of Medicine 

Optical Genome Mapping Reveals New Insights into ZFTA Fusion in Supratentorial Ependymomas
Jianling Ji, Children's Hospital Los Angeles, USC

Speed Abstracts Session II

Clinical Utility of Optical Genome Mapping: Comparison with Standard Cytogenomics Work-up for Hematological Malignancies
Gokce Toruner, MD Anderson Cancer Center

High-risk genetic variants underlie unfavorable prognosis of B-lymphoblastic leukemia patients of Hispanic ethnicity
Wengyn Maximilian, Children's Hospital Los Angeles

Improving interoperability of therapeutics and their targets for clinical and precision medicine applications
Matthew Cannon, Nationwide Children's Hospital

Five-year Experience of Evaluating Individuals At-risk for Underlying Genetic Predisposition to Hematologic Malignancy
Min Fang, Fred Hutchinson Cancer Center

Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies
Trilochan Sahoo, Bionano Laboratories

Platinum Vendor Showcase 

(No CME or CEUs available)

Diamond Vendor Showcase 

(No CME or CEUs available)

Buffet Lunch
Exhibit Hall

Session 5: Hematological Malignancies 1   

Real-World Analysis of Cytopenic Patients for Identification of Clonal Cytopenia(s) of Undetermined Significance (CCUS)
Anwar Iqbal, University of Rochester Medical Center

Chromosomal Microarray Analysis Work-up for Hypocellular MDS Patients with Inconclusive Cytogenetics
Ha Nguyen, Northwestern Medicine
Technologist Award

Prognostic significance of copy number gain of MYC detected by FISH analysis in large B-cell lymphoma
Madina Sukhanova, Northwestern University Feinberg School of Medicine

Whole transcriptome sequencing as a diagnostic tool for AML
Victória Tomaz, Hospital Israelita Albert Einstein
Trainee Award

Invited Speaker Presentation
Francesc Sole, Josep Carreras Leukaemia Research Institute

Session 6: Bioinformatics and Genomic Resources

Optical Genome Mapping identifies additional cytogenetic abnormalities in patients with hematologic malignancies
Sachin Jadhav, HealthCare Global

Comprehensive Genomic Characterization of Infantile Cancers Reveals High Yield of Therapeutically Targetable Alterations
Mariam Mathew, Nationwide Children's Hospital

Coffee Break

CGC Scientific and Program Updates

Implementation survey of the ACMG/CGC standards for interpretation of acquired CNAs and CN-LOH in neoplastic disorders
Fady Mikhail, University of Alabama at Birmingham

Current State of Diagnostic Testing in Pediatric Sarcoma: Practical Solutions to Diagnostic Challenges
Kathleen Schieffer, Nationwide Children's Hospital

CGC Updates: Early Career/CCGA/Webinar Overview

Spotlight Symposium: ISCN Nomenclature
Rosalind Hastings, ISCN Standing Committee Chair & GenQA Consultant; Oxford University Hospitals NHS Foundation Trust

Poster Viewing Session
Exhibit Hall

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

Session 7: Bioinformatics, Artifical Intelligence, Machine-Learning 2

Cell-free DNA fragmentation profiling as a method for tumor fraction assessment and treatment monitoring in NSCLC
Zachary Skidmore, Delfi Diagnostics, Inc.

Resolving Ambiguities in Copy Number Variation Representation
Kori Kuzma, Nationwide Children's Hospital

Automated Deep Aberration Detection from Chromosome Karyotype Images
Min Fang, Fred Hutchinson Cancer Research Center

Fusion Curation Interface: an educational tool to explore a unified framework for representing & curating gene fusions
Kathryn Stahl, Nationwide Children's Hospital
Technologist Award

Keynote Presentation
Guillermo Garcia-Manero, MD Anderson Cancer Center

10:00 - 10:45 AM

Coffee Break

Session 8: Hematological Malignancies 2

Frequency and Etiology of Cytogenetically Cryptic Oncogenic Fusions in Pediatric AML
Gordana Raca, Children's Hospital Los Angeles

Clonal Hematopoiesis in Childhood Cancer Survivors
Irenaeus Chan, Washington University School of Medicine

Integrative Cytogenetic and Molecular Studies Unmasks 'Chromosomal Mimicry' in Hematologic Malignancies
Adrian Dubuc, Brigham and Women's Hospital

Optical genome mapping in hematological malignancy: Clinical outcomes in a 2-year follow-up retrospective study
Nikhil Sahajpal, Greenwood Genetic Center

Speed Abstracts Session III

Evolution of a variant curation procedures in the open-access cancer variant interpretation knowledgebase CIViC
Kilannin Krysiak, Washington University School of Medicine

Gene Normalizer: a tool to resolve genetic ambiguity through data harmonization
Anastasia Smith, The Ohio State University

Cell-type-specific genetic-to-epigenetic relationships in the human breast
Axel Hauduc, University of British Columbia 

Assessment of TRG and TRB Clonality by NGS of Dermatologic Specimens is Impacted by Biopsy Type, DNA and Amplicon Sizes
Jane Houldsworth, Icahn School of Medicine at Mt. Sinai

Genomic microarray analysis reveals heterogeneity in high hyperdiploid B-cell acute lymphoblastic leukemia
Julie Feusier, ARUP Laboratories-Phoenix Children's 

Platinum Vendor Showcase

(No CME or CEUs available)

Diamond Vendor Showcase

(No CME or CEUs available)

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

Session 9: Applications of Emerging Technologies in Clinical Genomics 2

Targeted RNA-Seq on fresh frozen and methanol/acetic acid fixed cells in diagnostic workup of hematologic malignancies
Xiaoyu Qu, Fred Hutchinson Cancer Center

A novel method for detection of loss of heterozygosity using B-allele frequency from optical genome mapping data
Aliz Raksi, Bionano Laboratories - Tesa Consulting

Analysis of Gene Rearrangements in Neoplasms with Hi-C Sequencing Using Fresh-Frozen and FFPE Specimens
Yajuan Liu, University of Washington-Seattle

Rare SRY-positive derivative X chromosome in female fetus with apparently normal development
Casey Brewer, Cincinnati Children's Hospital Medical Center

Invited Speaker Presentation
Joseph Khoury, University of Nebraska Medical Center

Coffee Break

Diamond Vendor Showcase

(No CME or CEUs available)

Platinum Vendor Showcase

(No CME or CEUs available)

Speed Abstracts Session IV

ClinGen Pediatric Cancer Taskforce initiatives to advance pediatric clinical interpretations through expert curation
Jason Saliba, Washington University School of Medicine

Uveal Melanoma - The New Zealand Perspective
Amanda Dixon-McIver, IGENZ

VMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies & overgrowth disorders
Avinash Dharmadhikari, Children's Hospital Los Angeles

Clinical validation and Implementation of exome, transcriptome and whole genome sequencing for pediatric cancers
Alexandre Rouette, CHU Sainte-Justine - Molecular Diagnostic Lab

Whole-exome sequencing identifies somatic mutations penile squamous cell carcinoma
Kelly Duarte, University of Sao Paulo

Spotlight Symposium: GOAL Consortium
Dara Aisner, University of Colorado
Jeremy Segal, University of Chicago

Session 10: Genomic resources for variant curation and standardization 

Curating Variants of Established Clinical Significance
Mariam Khanfar, Washington University School of Medicine

Implementing the ClinGen/CGC/VICC Oncogenicity Guidelines in a Pediatric Variant Classification Workflow
Wesley Goar, Nationwide Children's Hospital

Oncogenic assessment of FLT3 Variants by the ClinGen FLT3 Somatic Cancer Variant Curation Expert Panel
Jason Saliba, Washington University School of Medicine

Feasibility, Accuracy and usability analysis of MapAML, a first-in-class app for integrated diagnosis in AML
Thais Moyen, Hospital Israelita Albert Einstein

Keynote Presentation
David Beck, New York University School of Medicine

10:30 - 11:15 AM

Coffee Break

Session 11: Solid Tumors 2

A cell-free DNA 5-hydroxymethylcytosine marker predicts immunotherapy response in lung cancer
Zejuan Li, Houston Methodist

Profiling PIK3CA Variants - a highlight of C2 domain variants in Disorders of Somatic Mosaicism
Yang Cao, Washington University School of Medicine

A female-specific chimeric RNA with differential expression in COVID patients
Xinrui Shi, University of Virgina
Trainee Award

Utilizing Rapid Molecular Testing to Reduce Disparites in Pediatric Cancer in Sub-Saharan Africa
Julie Gastier-Foster, Baylor College of Medicine/Texas Children's Hospital

12:15 - 12:45 PM

CGC 2023 Business Meeting