AMP Horizons Series: Beyond Reference Genomes: Population-scale Analysis of Genomes with Long Reads

This contains the webinar and continuing education credit (CME and CMLE) 

Long read sequencing is now well established for producing high quality reference genomes, including the first gap-free Telomere-to-Telomere assembly of a human genome. More recently, thanks to substantial improvements in throughput, costs, and quality, long read sequencing is starting to be used for population-scale analysis of clinical genomes, especially to develop a detailed analysis of structural variants present. Here Dr. Schatz will discuss the bioinformatic software needed to take advantage of these data, focusing on the accurate identification and comparison of variants in tumor-normal samples, family pedigrees, and large populations. He will also discuss how he has used these approaches to improve the resolution of germline and somatic variants in a cancer and other human genetic diseases.

Learning Objectives:

  • Discuss the importance of structural variants in healthy and diseased genomes
  • Describe how long read sequencing differs from short read sequencing
  • Review the most important software tools for analyzing structural variants


Michael Schatz, PhD
Sidney Kimmel Comprehensive Cancer Center
Johns Hopkins University
Baltimore, MD


Cinthya Zepeda- Mendoza, PhD
AMP T&E Committee Member
ARUP Laboratories

Salt Lake City, UT

Duration: 1 hr
Level of Instruction: Intermediate
Date Recorded: August 18, 2020

Planned and coordinated by the Training and Education Committee

Continuing Education Credit Information

CME credit: 1.0
CMLE credit: 1.0 
Last day to claim credit: March 20, 2022

Accreditation Statements
AMA PRA Category 1 Credit(s)™
This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education through the joint providership of American Society for Clinical Pathology (ASCP) and Association for Molecular Pathology (AMP). The American Society for Clinical Pathology (ASCP) is accredited by the ACCME to provide continuing medical education for physicians.

The ASCP designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only credit commensurate with the extent of their participation in the activity.

This continuing medical laboratory education activity is recognized by the American Society for Clinical Pathology for 1.0 hours of CMLE credit. ASCP CMLE credit hours are acceptable for the ASCP Board of Certification (BOC) Certification Maintenance Program (CMP). CMLE credit hours meet the continuing education requirements for the ASCP Board of Certification Credential Maintenance Program (CMP) and state relicensure requirements for laboratory personnel. Participants should claim only the credit commensurate with the extent of their participation in the activity. 

Note: Members of AMP can access this webinar at no cost. Join the AMP Family!

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