2025 Scientific Program
Instructions to Access the CGC 2025 Virtual Platform
Registered attendees of the CGC 2025 Annual Meeting can access the virtual platform from the following links:
Click the following link to access the CGC 2025 Virtual Platform:
cgc.ezavconferences.com
Enter the email address you used to register for the meeting, then click "Continue"
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Click the following link to access the Sunday morning Pre-Meeting Workshops:
cgcworkshop.ezavconferences.com
Access to the Pre-Meeting Workshop site will only be granted to those who registered for the workshops.
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2025 Scientific Program
Download the CGC 2025 Scientific Agenda
All session times are in US Central Daylight Time.
Sessions will be recorded and available for later viewing for our participants in different time zones.
Saturday, August 2, 2025
In-Person Unconference
Unconference participation incurs an additional registration fee.
9:00 AM - 12:45 PM
Morning Session
12:45 PM - 1:40 PM
Lunch for In-Person Variant Interpretation Unconference
1:40 PM - 2:50 PM
Afternoon Session, Part One
2:50 PM - 3:00 PM
Coffee Break for Unconference Attendees
3:00 PM - 5:30 PM
Afternoon Session, Part Two
6:30 - 8:30 PM
Evening Social for Unconference Attendees
8:30 - 10:00 AM
Navigating Academic vs. Non-academic Clinical Pathways and Achieving Success/Happiness in Academic Medicine
Moderators:
Patrick Gonzales, The University of Kansas Medical Center and Christopher Maher, Washington University School of Medicine
Presenters:
Rachel Burnside, University of Florida College of Medicine, FL
Marilyn Bui, Moffitt Cancer Center and Research Institute, FL
10:00 - 10:15 AM
Coffee Break for Workshop Attendees
10:15 - 11:45 AM
Bioinformatics Workshop on Recurrent Biomarkers in Cancer Genomes
Moderator:
Alex Wagner, Nationwide Children's Hospital and The Ohio State University
Presenters:
Jinghui Zhang, St. Jude Children's Research Hospital, TN
Olena Vaske, University of California Santa Cruz, CA
JianJiong Gao, Memorial Sloan Kettering Cancer Center, NY
Opening of the 16th Annual Meeting of the Cancer Genomics Consortium
1:00 - 1:05 PM
Welcome
Fady Mikhail, University of Alabama at Birmingham, AL
1:05 - 1:15 PM
Presidential Address
Jane Houldsworth, Icahn School of Medicine at Mount Sinai, NY
1:15 - 2:15 PM
Keynote Presentation
Clinical Application of Genomics for Childhood Cancer Patients - An Update on Two Decades of Precision Oncology
Will Parsons, Baylor College of Medicine and Texas Children's Hospital, TX
Introduction: Avinash Dharmadhikari, Children’s Hospital Los Angeles
2:15 - 3:15 PM
Platform Session 1: Solid Tumors
Moderator: Hussam Al-Kateb, Mayo Clinic and Fatima Zahra Jelloul, MD Anderson Cancer CenterRare oncogenic structural variations in FGFR genes in childhood brain tumors provide potential therapeutic targets
Mary Clay Bailey, Baylor College of Medicine, TX
Chromothripsis in meningiomas is associated with more aggressive behavior
Ha Nguyen, Northwestern Medicine, IL
Clinicopathologic features and outcomes for colorectal carcinomas with KRAS codon 146 mutations
Bryan Iorgulescu, MD Anderson Cancer Center, TX
Complex copy number variation in atypical melanocytic neoplasms and early melanoma: A focused study of 60 cases
Katherine Geiersbach, Mayo Clinic, MN
3:15 - 4:00 PM
Coffee Break in the Exhibit Hall
Science Café Presentations
Introduction: Rebecca Smith, Vanderbilt University Medical Center
ADS Biotec
Nichole Mandanici, ADS Biotec
Agilent Technologies
Victoria Garcia, Agilent Technologies
Biocartis
Doug Heber, Biocartis
Asuragen
Tom Bittick, Asuragen, a Bio-Techne brand
4:00 - 4:15 PM
Platinum Exhibitor Showcase: Natera
MRD testing with actionable genomic and genetic information for improved cancer management
Angel Nguyen, Natera Inc.
Introduction: Chuan Gao, Memorial Sloan Kettering Cancer Center
(No CME or CEUs available)
4:15 - 4:30 PM
Platinum Exhibitor Showcase: Atrandi Biosciences
Next-generation karyotyping: WGA-free single-cell CNV profiling
Rapolas Zilionis, Atrandi Biosciences
Introduction: Chuan Gao, Memorial Sloan Kettering Cancer Center
(No CME or CEUs available)
4:30 - 4:45 PM
CGC 2025 Marilyn M. Li Award for Outstanding Service to the CGC Community
4:45 - 5:15 PM
CGC 2025 Business Meeting
Platform Session 2: Variant Curation, Interpretation, and Standardization
Moderators: Casey Brewer, Cincinnati Children's Hospital Medical Center and Jianling (Jenny) Ji,Children's Hospital Los Angeles
Advancing gene curation in hereditary cancer: A comprehensive re-curation of breast/ovarian and colon cancer genes
Jasmine Baker, Baylor College of Medicine, TX
The landscape of germline and somatic cancer variants in tumor suppressor genes
Suhasini Lulla, Baylor College of Medicine, TX
Application of expert panel-derived oncogenicity guidelines in BCR::ABL1-like B-lymphoblastic leukemia/lymphoma
Mark Evans, Caris Life Sciences, UT
Systematic curation of defining and supportive diagnostic variants to enhance genomic diagnostics in pediatric oncology
Morteza Seifi, ClinGen, WI
6:15 - 8:15 PM
Welcome Reception
CGC Exhibit Hall, Legends Ballroom
Platform Session 3: Emerging Technologies in Clinical Genomics and Technical Lab Topics
Moderators: Wahab Khan, Dartmouth-Hitchcock Medical Center and Avinash Dharmadhikari, Children’s Hospital Los AngelesClinical utility of optical genome mapping (OGM) for B-cell acute lymphoblastic leukemia (B-ALL)
Angela Lager, University of Chicago, IL
Optical genome mapping on pediatric leukemia samples: A single hospital experience
John Herriges, Children's Mercy Hospital, Kansas City, MO
Impact of long-term plasma storage on cell free DNA biomarker studies
Zejuan Li, Houston Methodist Hospital and Weill Cornell Medical College, TX
Analytical validation and cross-platform analysis of the oncomine TCR pan-clonality assay for T-Cell receptor profiling
Mohamed Maher, MD Anderson Cancer Center, TX
9:30 - 10:15 AM
Invited Session 1: Federal Regulations Affecting Molecular Diagnostic Testing and Gene Patenting
Moderators: Lynne Abruzzo, Medical University of South Carolina and Niroshi Senaratne, University of California Los Angeles
Donald Karcher, George Washington University Medical Center, Washington, D.C.
10:15 - 11:00 AM
Coffee Break in the Exhibit Hall
Science Café Presentations
Introduction: Mariam Mathew, Nationwide Children's Hospital
SOPHiA Genetics
Amy Prater, SOPHiA Genetics
BioView
Taylor Powell, BioView
Illumina
Heather Robinson and Samyuktha Dasar, Illumina
11:00 - 11:30 AM
Diamond Exhibitor Showcase: Thermo Fisher Scientific
Neuroblastoma: A complex disease
Yassmine Akkari, Nationwide Children’s Hospital
Introduction: Shalini Reshmi, Nationwide Children's Hospital
(No CME or CEUs available)
11:30 AM - 12:00 PM
CGC Updates
Moderator: Jane Houldsworth, Icahn School of Medicine at Mount Sinai
(No CME or CEUs available)
CGC Updates
Jane Houldsworth, Icahn School of Medicine at Mount Sinai, NY
Geneticist Toolkit Update
Joie Olayiwola, Ohio State University, OH
CCGA Update
Jennelle Hodge, Indiana University, IN
Platform Session 4: Hematologic Malignancies
Moderators: Patrick Gonzales, The University of Kansas Medical Center and Ruizhi (Vince) Duan, Washington University School of MedicineDiagnostic utility of FISH testing for Ph-like B-ALL: A 5-year institutional experience
Fady Mikhail, University of Alabama at Birmingham, AL
Genomic characterization of CRLF2-rearranged pediatric B-ALL using transcriptome sequencing (RNA-Seq)
Gordana Raca, Children's Hospital Los Angeles, CA
Genomic Proximity Mapping (GPM): Evaluation of a next generation cytogenomic assay for acute myeloid leukemia
Min Fang, Fred Hutchinson Cancer Center, WA
Comparative analysis of targeted RNA-Seq and optical genome mapping for detecting clinically significant gene rearrangements
Gokce Toruner, MD Anderson Cancer Center, TX
1:00 - 2:00 PM
Buffet Lunch and Networking
Exhibit Hall and Foyer
2:00 - 3:00 PM
Invited Session 2: Genome mapping and sequencing technologies for characterizing structural variants
Moderators: Rashmi Kanagal-Shamanna, MD Anderson Cancer Center and Brynn Levy, Columbia University Medical Center and the New York Presbyterian Hospital
Lisa Lansdon, Children’s Mercy Hospital, Kansas City and University of Missouri-Kansas City School of Medicine, MO
Fritz Sedlazeck, Baylor College of Medicine, TX

Keynote Presentation
Molecular-genomic Findings in Leukemias: Diagnostic, Prognostic, and Therapeutic Implications
Hagop Kantarjian, MD Anderson Cancer Center, TX
Introduction: Rashmi Kanagal-Shamanna, MD Anderson Cancer Center
4:00 - 4:45 PM
Coffee Break in the Exhibit Hall
Science Café Presentations
Introduction: Parastou Tizro, City Of Hope Comprehensive Cancer Center
GA4GH
Alex Wagner, Nationwide Children’s Hospital
Invivoscribe
Katja Manninen, Invivoscribe
n6
Wes Austin, n6
4:45 - 5:00 PM
Platinum Exhibitor Showcase: Arima Genomics
Redefining cancer diagnostics: How Aventa clinical Hi-C transforms FFPE testing for fusions and rearrangements in lymphomas and solid tumors
Anthony Schmitt, Arima Genomics
Introduction: Marilyn Li, University of Pennsylvania Medical School
(No CME or CEUs available)
5:00 - 5:45 PM
Speed Abstract Session 1: Solid Tumors, Bioinformatics, Artificial Intelligence, Emerging Technologies, and Other Advances in Clinical Genomics
Moderators: Trevor Pugh, University of Toronto and Aravindh Nagarajan,Children's Mercy Hospital - Kansas City
Tumor mutation burden (TMB) as a biomarker in advanced and metastatic breast cancers - An analysis of clinical NGS data in a 74 cases series
Liu Liu, Brown University Health, RI
Multi-modal validation and pan-cancer analysis of 9p21 loss: Diagnostic and prognostic implications
Holly Hill, MD Anderson Cancer Center, TX
Technologist Award
Expanding MAVE data maps for use in human genomics applications
Jeremy Arbesfeld, The Ohio State University, OH
New Q-Band artificial intelligence-based chromosome analysis and karyotyping - A pilot evaluation
Cristina Steele, Applied Spectral Imaging for Laboratorio Clinico Colcan, Colombia
5-hydroxymethylcytosine as a liquid biopsy biomarker in colorectal cancer
Christopher Maher, Washington University School of Medicine, MO
Accurate and reliable detection of clonal hematopoiesis in plasma cell-free DNA
Alyssa Parker, Vanderbilt University, TN
5:45 - 6:45 PM
Poster Session (Odd Numbered Posters), Cash Bar
CGC Exhibit Hall
6:45 PM
Early Career Social
For attendees in training or recently out of training
*Pre-registration is required. Please sign-up during meeting registration.
Platform Session 5: Bioinformatics, Artificial Intelligence, and Machine-Learning
Moderators: Alex Wagner, Nationwide Children's Hospital and The Ohio State University and Christopher Maher, Washington University School of MedicinePrediction of BRAF V600 mutation status in cutaneous melanoma using an explainable deep learning model
Vibha Rao, Dartmouth Health, NH
Prediction of gene expression in NSCLC tumors and their microenvironment using an explainable machine learning model
Shrey Sukhadia, Dartmouth-Hitchcock Medical Center, NH
Improving fusion detection sensitivity in the TruSight Oncology 500 Panel through DNA-based structural variant analysis
Qiliang Ding, Mayo Clinic, MN
Trainee Award supported by Asuragen, a Bio-Techne Brand
Improved copy number estimation in central nervous system (CNS) tumors using methylation array
Drew Duckett, Northwestern University, IL
Keynote Presentation
Discovering and Defining the Telomere Biology Disorders
Sharon Savage, National Cancer Institute, National Institutes of Health, MD
Introduction: Fady Mikhail, University of Alabama at Birmingham
10:30 - 11:15 AM
Coffee Break in the Exhibit Hall
Science Cafe Presentations
Introduction: Holli Drendel, Atrium Health
OGT
John Vincent, OGT
Phase Genomics
Stephen Eacker, Phase Genomics
Promega
Ben Schmidt, Promega
Oxford Nanopore Technologies
Elissa Levin, Oxford Nanopore Technologies
11:15 - 11:30 AM
Platinum Exhibitor Showcase: QIAGEN
Accelerate time to result in NGS oncology testing
Lorenzo Guy and Malaina Gaddis, QIAGEN
Introduction: Kristin Deeb, Emory University School of Medicine
(No CME or CEUs available)
11:30 - 11:45 AM
Platinum Exhibitor Showcase: Nabsys
Introducing Nabsys: Electronic genome mapping for structural variant detection in cancer and cytogenetics
Edd Lee, Nabsys
Introduction: Kristin Deeb, Emory University School of Medicine
(No CME or CEUs available)
11:45 AM - 12:45 PM
Invited Session 3: Cancer genome bioinformatics in a clinical setting
Moderators: Wesley Goar, Nationwide Children's Hospital and Yunjia Chen, University of Alabama at Birmingham
Mark Cowley, Children's Cancer Institute, Australia
Sheryl Elkin, QIAGEN Digital Insights, MA
12:45 - 2:00 PM
In-Person Round Table Discussions with Lunch
Please sign up for table topics during meeting registration.
2:00 - 2:45 PM
Speed Abstracts Session 2: Variant Curation, Interpretation and Standardization, and Equity/Access in Genomic Medicine
Moderators: Thuy Phung, University of Texas Health Science Center at San Antonio and Jason Saliba, Washington University School of MedicineDevelopment of standards for the assessment of gene fusion oncogenicity
Karen Tsuchiya, Nationwide Children's Hospital, OH
The actionable transcriptome: A framework for incorporating transcriptional profiling into precision oncology
Amber Johnson, MD Anderson Cancer Center, TX
Introduction of an online portal for cancer-specific gene list curation
Beth Pitel, Mayo Clinic, MN
Enhancing data standardization and structure to improve clinical variant classification
Wesley Goar, Nationwide Children's Hospital, OH
Somatic variant classifications in ClinVar: An update after one year
Melissa Landrum, National Center for Biotechnology Information, National Library of Medicine, and National Institute of Health, MD
Clinical impact of in-house molecular testing of solid tumors in resource-limited settings: A pilot study in Pakistan
Ali Islam, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Pakistan
2:45 - 3:45 PM
Poster Session (Even Numbered Posters)
CGC Exhibit Hall
Coffee Break in the Exhibit Hall
Science Café Presentations
Introduction: Diana Marcela Rush, PacBio
Bionano
Alka Chaubey, Bionano
Velsera
Jason Peterson, Velsera
Watchmaker Genomics
Dustin Hite, Watchmaker Genomics
4:30 - 4:45 PM
Platinum Exhibitor Showcase: Labcorp
Liquid biopsy across the cancer care continuum
Eric Severson, Labcorp Oncology Medical and Operations
Introduction: Amanda Fortier Sussman, Labcorp
(No CME or CEUs available)
4:45 - 5:00 PM
Platinum Exhibitor Showcase: Novartis
Paroxysmal nocturnal hemoglobinuria
Roger Bishop, Novartis Precision Health
Introduction: Amanda Fortier Sussman, Labcorp
(No CME or CEUs available)
5:00 - 5:30 PM
Panel Introduction: Integration of Cytogenetics and Molecular Genetics Laboratories
Moderators: Lu Wang, St. Jude Children's Research Hospital and Fady Mikhail, University of Alabama at Birmingham
Panelists:
Yassmine Akkari, Nationwide Children's Hospital, OH
Shashikant Kulkarni, MD Anderson Cancer Center, TX
Gordana Raca, Children's Hospital Los Angeles, CA
Daynna Wolff, Medical University of South Carolina, SC
5:30 - 6:00 PM
Panel Discussion: Integration of Cytogenetics and Molecular Genetics Laboratories
Moderators: Lu Wang, St. Jude Children's Research Hospital and Fady Mikhail, University of Alabama at Birmingham
Panelists:
Yassmine Akkari, Nationwide Children's Hospital, OH
Shashikant Kulkarni, MD Anderson Cancer Center, TX
Gordana Raca, Children's Hospital Los Angeles, CA
Daynna Wolff, Medical University of South Carolina, SC
Register for activities during meeting registration. Participants can pick up tickets at the CGC 2025 Registration Desk.
Ice Skating at the Galleria
Museum of Illusion
Platform Session 6: Germline/Constitutional Genomics, Mosaicism, and Equity/Access in Genomic Medicine
Moderator: Angela Lager, University of Chicago and Chuan Gao, Memorial Sloan Kettering Cancer CenterAssessing the efficacy of additional cell analysis in detecting low-level constitutional mosaic karyotypes
Aiko Otsubo, University of Michigan, MI
Best practices for testing low-level mosaic variants: Recommendations from CGC somatic overgrowth & vascular anomalies working group
Avinash Dharmadhikari, Children's Hospital Los Angeles, CA
Genetic regulation of inflammatory proteomes: Bridging genomic disparities between African and European populations
Caroline Amour, Kilimanjaro Christian Medical University College, Tanzania
Trainee Award supported by Asuragen, a Bio-Techne Brand
Current state of molecular cancer testing in resource-limited and underserved communities
Casey Brewer, Cincinnati Children's Hospital Medical Center, OH
10:00 - 11:00 AM
Invited Session 4: Clinical Variant Interpretation Knowledgebases in Cancer Genomics
Moderators: Cate Randall Paschal, University of Washington and Kilannin Krysiak, Washington University School of Medicine
Beth Pitel, Mayo Clinic and Variant Interpretation for Cancer Consortium (VICC), MN
Alex Wagner, Nationwide Children's Hospital and Variant Interpretation for Cancer Consortium (VICC), OH

11:00 - 11:30 AM
Coffee Break in the Exhibit Hall
Platform Session 7: Diagnostic Challenge Case Studies
Moderators: Gordana Raca, Children's Hospital Los Angeles and Aiko Otsubo, University of MichiganDetection of IGH::MYC and a cryptic IGH::BCL6 rearrangement refines diagnosis in high-grade B-Cell lymphoma
Will Coward IV, University of North Carolina Healthcare, NC
Technologist Award
Decoding the genetic complexity of B-ALL through long-read and RNA sequencing methods
Jiadi Wen, Yale School of Medicine, CT
Rare TBL1XR1::JAK2 fusion in a patient with pediatric T-ALL identified by optical genome mapping and long-read sequencing
Aravindh Nagarajan, Children's Mercy Hospital, Kansas City, MO
A rare recurrent 11;19 rearrangement resulting in KMT2A::MYO1F fusion in pediatric AML
Manisha Sutariya, University of Minnesota, MN
12:30 PM
Closing Remarks
Fady Mikhail, University of Alabama at Birmingham, AL