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.

In-Person Unconference

Unconference participation incurs an additional registration fee.

9:00 AM - 5:00 PM

In-Person Variant Interpretation Unconference

6:30 - 8:30 PM

Evening Social for Unconference Attendees
Location TBA

Pre-Meeting Workshops

Workshop participation incurs an additional registration fee, which includes attendance at both sessions.

8:30 - 10:00 AM

Navigating Academic vs. Non-academic Clinical Pathways and Achieving Success/Happiness in Academic Medicine

Presenters:
Rachel Burnside, University of Florida College of Medicine, FL
Marilyn Bui, Moffitt Cancer Center and Research Institute, FL

Coffee Break for Workshop Attendees

10:15 - 11:45 AM

Bioinformatics Workshop on Recurrent Biomarkers in Cancer Genomes

Presenters:
JianJiong Gao, Memorial Sloan Kettering Cancer Center, NY
Olena Vaske, University of California Santa Cruz, CA
Jinghui Zhang, St. Jude Children's Research Hospital, TN

Opening of the 16th Annual 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

2:15 - 3:15 PM

Platform Session 1: Solid Tumors

Rare 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, The University of Texas 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

4:00 - 4:30 PM

Diamond Exhibitor Showcase
(No CME or CEUs available)

4:30 - 4:45 PM

CGC Annual Award

4:45 - 5:15 PM

CGC 2025 Business Meeting

Platform Session 2: Variant Curation, Interpretation, and Standardization

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

Clinical 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, 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, The University of Texas MD Anderson Cancer Center, TX

Invited Session 1
Federal regulations affecting molecular diagnostic testing and gene patenting
Donald Karcher, George Washington University Medical Center, Washington, D.C.
Roger Klein, Arizona State University Law School, AZ

10:30 - 11:15 AM

Coffee Break in the Exhibit Hall

Science Café Presentations

11:15 - 11:30 AM

Platinum Exhibitor Showcase
(No CME or CEUs available)

11:30 AM - 12:00 PM

CGC Updates
(No CME or CEUs available)

Platform Session 4: Hematologic Malignancies

Diagnostic 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, The University of Texas MD Anderson Cancer Center, TX

1:00 - 2:00 PM

Buffet Lunch and Networking
Exhibit Hall and Foyer

Invited Session 2
Genome mapping and sequencing technologies for characterizing structural variants
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, The University of Texas MD Anderson Cancer Center, TX

4:00 - 4:45 PM

Coffee Break in the Exhibit Hall

Science Café Presentations

4:45 - 5:30 PM

Speed Abstract Session 1: Solid Tumors, Bioinformatics, Artificial Intelligence, Emerging Technologies, and Other Advances in Clinical Genomics 

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, The University of Texas MD Anderson Cancer Center, TX

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, Columbia

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

5:30 - 6:30 PM

Poster Session (Odd Numbered Posters), Cash Bar
CGC Exhibit Hall

7:00 PM

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

Platform Session 5: Bioinformatics, Artificial Intelligence, and Machine-Learning

Prediction 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

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

10:30 - 11:15 AM

Coffee Break in the Exhibit Hall

Science Cafe Presentations

11:15 - 11:30 AM

Platinum Exhibitor Showcase
(No CME or CEUs available)

11:30 - 11:45 AM

Platinum Exhibitor Showcase
(No CME or CEUs available)

Invited Session 3
Cancer genome bioinformatics in a clinical setting
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

Development 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, The University of Texas 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, NCBI/NLM/NIH, MD

Clinical impact of in-house molecular testing of solid tumors in resource-limited settings: A pilot study in Pakistan
Romena Qazi, 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

4:30 - 4:45 PM

Platinum Exhibitor Showcase
(No CME or CEUs available)

4:45 - 5:00 PM

Platinum Exhibitor Showcase
(No CME or CEUs available)

Panel Discussion on the Integration of Cytogenetics and Molecular Genetics Laboratories
Panelists:
Yassmine Akkari, Nationwide Children's Hospital, OH
Shashikant Kulkarni, The University of Texas MD Anderson Cancer Center, TX
Gordana Raca, Children's Hospital Los Angeles, CA
Daynna Wolff, Medical University of South Carolina, SC

Ice at the Galleria
Museum of Illusion

Platform Session 6: Germline/Constitutional Genomics, Mosaicism, and Equity/Access in Genomic Medicine

Assessing 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

Current state of molecular cancer testing in resource-limited and underserved communities
Casey Brewer, Cincinnati Children's Hospital Medical Center, OH

Invited Session 4
Clinical variant interpretation knowledgebases in cancer genomics
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

Detection 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 Cytogenetics Laboratory, NC

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

Download the CGC 2025 Scientific Agenda