Challenging No More: Simultaneously Tackling CMRGs and Methylation (This activity is supported by Oxford Nanopore Technologies Inc)
18 Mar 2025
ACMG offers industry and related organizations the opportunity to host non-commercial, grant-supported educational satellite sessions in conjunction with the meeting, enhancing the educational experience for attendees. Corporate Educational Satellite Sessions are planned solely by corporations/industry, ACCME providers, medical education companies and/or non-profit organizations. These sessions focus on highlighting new developments, generating interest in innovative products or services, and sharing the latest insights with meeting participants. These activities are not part of the official ACMG meeting programming and are not accredited by ACMG.
This workshop will present data and decentralizable methods of addressing some of our most challenging genes and variants: compound heterozygotes, repetitive regions, pseudogene homology, complex structural variants, and methylation using both targeted sequencing and whole genome methods.
Faculty:
Cate R. Paschal, PhD, FACMG, Seattle Children’s, Seattle, WA
Shilpa Korben, PhD, Harvard Medical School
Wendy Chung, MD, PhD, FACMG, Boston Children’s Hospital
Sissel Juul, PhD, Oxford Nanopore Technologies
Pre-registration is required.
For more information and to register
This workshop will present data and decentralizable methods of addressing some of our most challenging genes and variants: compound heterozygotes, repetitive regions, pseudogene homology, complex structural variants, and methylation using both targeted sequencing and whole genome methods.
Faculty:
Cate R. Paschal, PhD, FACMG, Seattle Children’s, Seattle, WA
Shilpa Korben, PhD, Harvard Medical School
Wendy Chung, MD, PhD, FACMG, Boston Children’s Hospital
Sissel Juul, PhD, Oxford Nanopore Technologies
Pre-registration is required.
For more information and to register
Learning Objectives
- Targeted CMRG sequencing strategies: comparing hybrid capture and adaptive sampling techniques
- CMRG variant calling strategies from whole genome sequencing
- Combining traditional variants, CMRG, and methylation in a single sequencing run