CGC 2020 Webinar Series


In an effort to provide high-quality online educational opportunities to our members and colleagues, we are excited to announce a new webinar series sponsored by the Cancer Genomics Consortium and the University of Wisconsin Collaborative Genomics Conference.

This three-lecture series will focus on new methods for detection of structural variants (copy number abnormalities and balanced rearrangements) in constitutional and cancer testing, and on interpretation of copy number abnormalities (CNAs) and copy-neutral loss of heterozygosity (CN-LOH) in cancer using the ACMG/CGC standards.

Attendees of the live webinar are offered complimentary AMA PRA Category 1 Credit through the University of Wisconsin Madison Interprofessional Continuing Education Partnership (ICEP).

Credit must be requested from ICEP within 24 hours of viewing the live webinar.

June Webinar

Interpretation of Copy Number Abnormalities (CNAs) and CN-LOH in Cancer
using the ACMG/CGC Standards: Working through Complex Cases

June 9, 2020

2:00 PM - 3:00 PM
Eastern Daylight Time

Vanessa Horner, PhD, FACMG

Director, UW Cytogenetics and Molecular Genetics Services WSLH
Assistant Professor, Department of Pathology and Laboratory Medicine
University of Wisconsin-Madison

Fady M. Mikhail, MD, PhD, FACMG

Co-Director, Cytogenetics Laboratory
Professor, Department of Genetics
University of Alabama at Birmingham

Gordana Raca, MD, PhD, FACMG

Director of Clinical Cytogenomics, Center for Personalized Medicine,
Department of Pathology
Children's Hospital Los Angeles
Associate Professor, Clinical Pathology, Keck School of Medicine of USC

This webinar will provide practical guidance how to streamline interpretation of CNAs and CN-LOH in neoplasia using the current ACMG/CGC standards. Easy steps to generate clear, accurate and well organized reports will be illustrated. Using case examples, the speakers will explain challenging concepts including interpretation of genomic complexity, adjustment of ploidy, estimation of the percentage of involved cells and reporting of abnormalities suspected to be germline.  Dr. Fady Mikhail will give an overview of the ACMG/CGC standards, describe levels of clinical significance of acquired CNAs and CN-LOH and clarify the criteria for classifying CNAs and CN-LOH into different tiers. Dr. Horner and Dr. Raca will illustrate variant interpretation and reporting on selected cases of hematologic malignancies (Dr. Horner) and solid tumors (Dr. Raca).

Learning Objectives:

  • To learn the principles for interpretation and reporting of clinically significant acquired CNAs and CN-LOH in cancer
  • To understand different levels of clinical significance of acquired CNAs and CN-LOH and the criteria for classifying CNAs and CN-LOH into different tiers
  • To know standard terms commonly used to describe genomic abnormalities in cancer, including amplification, chromothripsis, genomic and intrachromosomal complexity.
  • To learn required and optional components of clinical reports, and understand approaches for making the reports clear, informative and well-organized
  • To get familiar with different resources used to aid in interpretation of CNAs and CN-LOH in cancer

Registration Instructions

1. Create an account at ICEP (see pdf for detailed instructions):
2. Register for the GoToWebinar at:
3. Once you have registered with GoToWebinar you will receive an e-mail with the link for the day of the conference.
4. On the day of the conference, click on the link in the e-mail from the GoToWebinar registration e-mail. You will get a registration code to text to ICEP to count attendance for CME purposes.

Upcoming Webinars in the CGC Series

July 14, 2020
2:00 PM - 3:00 PM
Eastern Daylight Time


Copy Number Abnormality Detection from
Whole Genome Sequencing Data

Alka Chaubey, PhD, FACMG
Head of Cytogenomics, Perkin Elmer Genomics

Recordings Available from Recent Webinars


Optical Mapping and its Role as a Cytogenomics Tool in Cancer

Dr. Brynn Levy, MSc (Med), PhD, FACMG

Columbia University Medical Center,

New York Presbyterian Hospital

Dr. Levy will describe the principles of optical mapping, illustrate the capacity of this technology to detect balanced structural rearrangements in different sample types, and compare its performance with classic cytogenetic approaches including karyotype analysis and fluorescence in situ hybridization testing.

Application of Optical Mapping for Comprehensive Assessment of Structural Rearrangements in Hematological Malignancies

Dr. Rashmi Kanagal-Shamanna, MD

The University of Texas MD Anderson Cancer Center

Dr. Kanagal-Shamanna will discuss the application of optical mapping in comprehensive genomic characterization of hematological malignancies and highlight the clinical utility of this technique in management of including myelodysplastic syndromes.

Continuing Medical Education

Accreditation Statement

In support of improving patient care, the University of Wisconsin Madison ICEP is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC) to provide continuing education for the healthcare team.

Credit Designation Statements

The University of Wisconsin Madison ICEP designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credits. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The University of Wisconsin Madison, as a member of the University Continuing Education Association (UCEA), authorizes this program for .01 continuing education units (CEUs) or 1 hour.

Intended Audience

PhD, MD, RN, Genetic Counselors, and healthcare professionals who generate or use genomic/genetic data in their practice

Global Objectives

As a result of this educational regularly scheduled series, learners will be able to:

1. Recognize both common and rare genetic abnormalities associated with developmental delay, infertility, prenatal ultrasound findings, and oncology specimens.

2. Demonstrate an improved ability to effectively communicate genetic information across healthcare team members from different professions and disciplines.

Policy on Disclosure

It is the policy of the University of Wisconsin-Madison ICEP that the faculty, authors, planners, and other persons who may influence content of this CE activity disclose all relevant financial relationships with commercial interests* in order to allow CE staff to identify and resolve any potential conflicts of interest.  Faculty must also disclose any planned discussions of unlabeled/unapproved uses of drugs or devices during their presentation(s). For this educational activity, all conflicts of interest have been resolved and detailed disclosures are listed below.

* The University of Wisconsin-Madison ICEP defines a commercial interest as any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients The University of Wisconsin-Madison ICEP does not consider providers of clinical service directly to patients to be commercial interests.


Financial Relationship Disclosures

Discussion of Unlabeled/Unapproved uses of drugs/devices in presentation?

 Kimberly Anderson, MS, CGC, RSS Chair

No relevant financial relationships to disclose


 Lori Halverson, RSS Planner

No relevant financial relationships to disclose


 Fen Guo, Ph.D

No relevant financial relationships to disclose


 Kim Sprecker, OCPD Staff

No relevant financial relationships to disclose


 Kaitlin Lenhart, PhD

No relevant financial relationships to disclose


 Daniel Kurtcyz, MD

No relevant financial relationships to disclose


 Vanessa Horner, PhD, FACMG

No relevant financial relationships to disclose


 Fady Mikhail, MD, PhD, FACMG

No relevant financial relationships to disclose


 Gordana Raca, MD, PhD, FACMG

No relevant financial relationships to disclose