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

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This content was created in 2020, but has been reviewed and approved by the Training & Education Committee as useful, accurate, and relevant. Please note that in the time since this material was posted, there may have been additional developments, advancements, and/or more current publications in this field.

 

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This webinar does not contain continuing education credit (CME and CMLE) 

Description:
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

 

Speaker:

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

Moderator:

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

 

 

 

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