Advances in Characterizing Structural Chromosomal Alterations: Utility of Optical Genome Mapping and Long Read Sequencing in Hematopoietic Cancers and the Germline Genome

Saturday, November 23, 2024

10:15 AM – 11:45 AM PST

Location: 109 & 110, Level 1

CE: 1.5

Program Committee Moderator(s)

Craig Soderquist, MD

Assistant Professor
Columbia University
New York, New York, United States
Honey Reddi, PhD, FACMG (she/her/hers)

SVP and Medical DIrector
Belay Diagnostics
Sussex, Wisconsin, United States

Co-Moderator (Early Career)(s)

Eric McGinnis, MD (he/him/his)

Hematopathologist / Clinical Assistant Professor
Vancouver General Hospital / University of British Columbia
Vancouver, British Columbia, Canada

Session

Description: This session will explore recent advances in the characterization of germline and somatic structural chromosomal alterations in the human germline genome and hematopoietic malignancies. Speakers will discuss the role of long read sequencing and optical genome mapping in characterizing population genomics and the diagnosis, prognosis, and management of patients constitutional disorders and myeloid neoplasms. Additionally, the session will review the advantages and challenges of implementing these new technologies in clinical laboratories and the standardization of reporting nomenclature..

Learning Objectives:

Upon completion, participants will be able to describe the types of structural variants detected in AML using newer long read and chromatin conformation technologies.
Upon completion, participants will understand the strengths and weaknesses of each technology, including the type of data generated, technical and bioinformatic complexity, and costs.
Upon completion, participants will understand how structural variants identified by long read technologies may be reported and how it compares to traditional cytogenetic techniques.

Presentations:

10:15 AM – 11:00 AM PST

Optical Genome Mapping - A New Age in Cytogenetics
Breakout Speaker: Brynn Levy, MSc(Med), PhD (he/him/his) – Columbia University
11:00 AM – 11:45 AM PST

Long Read Sequencing: The Long and Short of It.
Breakout Speaker: Fritz Sedlazeck, Baylor College of Medicine – Baylor College of Medicine