CGC Webinars and Special Seminars
Building on the remarkable success of this educational series, the CGC is continuing the webinar series sponsored by the Cancer Genomics Consortium and the University of Wisconsin Collaborative Genomics Conference. This lecture series focuses on topics of high interest for CGC members and attendees of the UW Collaborative Genomic Conference, including implementation of new technologies in clinical genetic/genomic testing, standards and resources for interpretation of sequence and copy number variants, germline predisposition to cancer, and novel approaches for detection of structural variants in constitutional and cancer samples. The CGC is currently accepting cases for the 2024 Case Conference Series.
The CGC will also present additional seminars on special topics throughout the year. Please look for information both on this page and in emails for these opportunities.
April 2024 CGC Webinar:
Somatic Structural Variant Detection Via HiFi Sequencing In Pediatric Hematologic Malignancies
Tuesday, April 30, 2024
9:00 AM PST / 12:00 PM EST
Join Drs. Midhat Farooqi, Ayse Keskus, and Lisa Lansdon for an overview of structural variant calling from HiFi data using Severus, a recently-developed bioinformatics tool which can detect simple and complex structural variants (SV) from whole-genome long-read sequence data. Topics will include an overview of the utility of long-read sequencing in cancer testing, a description of how Severus takes advantage of improved long-read mappability and phasing to model chromosomal rearrangements, and discussion of a cytogenetically cryptic KMT2A::MLLT10 rearrangement detected by this methodology.
Level of Instruction: Intermediate to Advanced
Learning Objectives: At the end of this session, participants will be able to:
- Describe the benefits of long-read sequencing versus short-read sequencing.
- Summarize how the Severus algorithm calls structural variants from long-read sequence data.
- Identify cases that may benefit from additional testing, including structural variant detection using long-read data.
Dr. Midhat Farooqi is the Director of Molecular Oncology for the Department of Pathology & Laboratory Medicine at Children’s Mercy Kansas City and also for the Genomic Medicine Center at the Children’s Mercy Research Institute. As a molecular pathologist, Dr. Farooqi interprets clinical genetic testing results, both somatic and germline, for pediatric patients with cancer.
His research interests include epigenetic profiling and long read sequencing of pediatric liquid and solid tumors. He has received funding from the National Cancer Institute, Braden’s Hope for Childhood Cancer, Big Slick, Black & Veatch, and the Masonic Cancer Alliance. Dr. Farooqi is also an Associate Professor of Pathology at the University of Missouri-Kansas City School of Medicine, and a member of the University of Kansas Cancer Center.
Dr. Ayse Keskus received her PhD from Bilkent University in Turkey. She is currently working in Kolmogorov Lab at NCI as a postdoctoral fellow. Her research interests include complex structural variations in cancer genomes and their functional impacts.
Dr. Lisa Lansdon is an Assistant Director of the Molecular Genetics Laboratory in the Department of Pathology & Laboratory Medicine at Children’s Mercy Kansas City, as well as an Assistant Professor of Pathology at the University of Missouri-Kansas City School of Medicine.
Her primary clinical focus is laboratory genetic testing for pediatric patients with cancer, whereby she analyzes and interprets molecular genetic test results in addition to performing clinical test validations. Her current research interests include exploring the clinical utility of RNA expression profiling and long read sequencing in pediatric cancer diagnostics.
CGC members are eligible to receive P.A.C.E. Continuing Education credit for attending this webinar.
To become a member or learn more about the benefits of CGC membership, CLICK HERE.
CGC Early Career Webinar:
Effective Curriculum Vitae (CV) and Cover Letter Preparation
Thursday, February 15, 2024
9:00 AM PST / 12:00 PM EST
As we embark on a new year filled with opportunities for professional growth and development, the Cancer Genomics Consortium Early Career Committee is pleased to extend an invitation to a webinar focused on effective curriculum vitae (CV) and cover letter preparation. In the dynamic field of genetics, presenting a strong curriculum vitae (CV) and crafting compelling cover letters are essential skills that contribute to career advancement and success. Whether you are a clinical laboratory professional or a budding researcher, this webinar aims to provide valuable insights and practical tips to enhance your application materials for both the industry and academic spaces. This webinar is designed for members of the genomics community who are in training or recently out of training and is open to both CGC members and those who are not yet members.
Our guest speakers, Dr. Rhea Behlmann a Laboratory Director at Invitae, Dr. Panieh Terraf a Medical Geneticist from Memorial Sloan Kettering Cancer Center, and Dr. Alex Wagner a Principal Investigator from Nationwide Children's Hospital will share valuable insights and answer your questions during the interactive Q&A session.
Dr. Rhea Behlmann is board-certified in Laboratory Genetics and Genomics by the American Board of Medical Genetics and Genomics (ABMGG) and is currently a Laboratory Director at Invitae. Her operational interests focus on safeguarding data quality and optimizing workflow efficiency to provide high quality genetic results to patients and providers. Her expertise includes sequencing and structural variant interpretation & reporting using both molecular and cytogenetic technologies, as well as assay validation, product support, process improvement, and ensuring regulatory compliance.
Prior to joining Invitae, Dr. Behlmann served as a clinical laboratory director at PerkinElmer Genomics and also EGL Genetic Diagnostics. She brings with her over 10 years of experience in the clinical diagnostics field from multiple laboratory perspectives, including as a clinical laboratory scientist, validation assay development specialist, and clinical laboratory director. She has co-authored several publications as part of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance committee, as well as research articles and clinical case studies.
Dr. Behlmann completed her ABMGG clinical training from Emory University in Atlanta, GA, and earned her doctoral degree in Genetics from Washington University in St. Louis, MO.
Dr. Panieh Terraf is a medical geneticist at Memorial Sloan Kettering Cancer Center. She specializes in cancer genome diagnostics and her primary clinical responsibilities encompass the analysis and clinical interpretation of complex molecular and cytogenetic results crucial for identifying and diagnosing both hereditary cancers as well as acquired hematological malignancies and solid tumors. She works closely with oncologists and pathologists to help guide patient-personalized care by utilizing her expertise in genomic diagnostics and its implications in the screening, diagnosis, and management of cancer.
Dr. Alex Wagner is a Principal Investigator at The Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital, and Assistant Professor in the Departments of Pediatrics and Biomedical Informatics at the Ohio State University College of Medicine. His research is focused on the development of tools and standards for advancing precision medicine and our knowledge of genomic alterations in cancers. Dr. Wagner serves as director of the international Variant Interpretation for Cancer Consortium (VICC), co-lead of the Variant Representation team in the Global Alliance for Genomics and Health (GA4GH), co-lead of
the BRIDGE Center Standards Core for the NIH Bridge2AI program , and a member of the HGVS Variation Nomenclature Committee. He is a proponent of open science, FAIR data sharing, and AI-assisted scalable variant interpretation.
Dr. Wagner has co-developed several precision medicine web tools, including the Drug-Gene Interaction Database (DGIdb), the database of Clinical Interpretations of Variants in Cancer (CIViC; www.civicdb.org), and the VICC meta-knowledgebase. His research continues to explore new models and tools to address the challenges of variation and genomic knowledge representation, including his work as a lead designer of the GA4GH Variation Representation Specification and the VICC Gene Fusion specification (fusions.cancervariants.org). His active projects also include several data standardization efforts supporting cancer variant classification, including the Genome Aggregation Database (gnomAD) and the Multiplexed Assays for Variant Effect database (MaveDB).
February 2024 CGC Webinar:
Hereditary Myeloid Malignancy Syndromes: more common than you think
Thursday, February 8, 2024
11:00 AM PST / 2:00 PM EST
Amy Trottier, MD, FRCPC
Join Amy Trottier, MD, FRCPC for an overview of hereditary hematologic malignancy syndromes, with a focus on those that predispose to MDS or AML. Topics will include who, how, and when to test as well as what to do with the results.
Session Abstract:
An overview of hereditary hematologic malignancy syndromes, with a focus on those that predispose to MDS or AML. Topics will include who, how, and when to test as well as what to do with the results. She will also present results of large scale germline genetic sequencing studies conducted on an unbiased international MDS population and highlight ongoing areas of research.
Level of Instruction: ADVANCED
Learning Objectives: At the end of the session, the participant will be able to:
- Identify the characteristics of patients with concern for hereditary hematologic malignancies.
- Discuss the challenges for germline testing in this patient cohort.
- Compare the challenges faced by this patient population to the somatic-driven MDS/AML population.
- Develop potential action plans for testing and result notification for this patient population.
The CGC Education committee is excited to continue the monthly case conference series offered in collaboration with the UW Collaborative Genomics Conference in 2024.
These conferences will allow CGC members to: showcase their interesting and educational cases, promote their clinical and research work, consult with colleagues about challenging test results, earn CE credits at no charge through the University of Wisconsin–Madison Interprofessional Continuing Education Partnership (ICEP), and identify collaborators with similar cases and shared clinical or research interests.
Additional benefits for trainees include winning the ’Best Case Presentation‘ award and the option to submit a case report for publication in the Cancer Genetics journal.
Register for the February 8 Webinar HERE
2. Once you have registered, you will receive a confirmation e-mail with the Zoom link for the day of the webinar.
3. On the day of the webinar, click on the link in the registration e-mail to join the webinar.
