NOV 12, 2015 9:00 AM PST

Introducing an ancestrally diverse whole genome data set for select cohort and control research applications

Speaker
  • Chief, Division of Medical Genomics, Inova Translational Medicine Institute, Associate Professor, Virginia Commonwealth University School of Medicine
    BIOGRAPHY

Abstract

Introduction and adoption of whole-genome sequencing has enabled new methods of investigation in the quest for answers in diagnostic odyssey cases as well as in the broader study of genetic diversity in affected and healthy populations. Ground breaking studies at the Inova Translational Medicine Institute (ITMI) have generated a data set of nearly 7,000 and growing fully sequenced genomes annotated with familial relationships, ancestral origin and clinical phenotypes. This data set has been the focus of a number of recent publications describing diverse applications including clinical diagnostic cases of children presenting with congenital anomalies and characterization of germline variation in cancer-susceptibility genes in a healthy population, as well as having provided the basis for an exploration of the utility of whole-genome sequencing for detection of newborn screening disorders.
Using these and other studies as examples, we will discuss the importance of having access to such an ancestrally diverse data set in understanding genetic variation and interpreting the likely clinical relevance of individual genomic variants.

Learning Objectives

  1. Appreciate the utility of whole-genome sequencing for diagnostic odyssey cases and cohort analyses
  2. Understand the value of an ancestrally diverse control data set 
  3. Apply allele frequency information in the evaluation of likely pathogenic variants for clinical significance

Show Resources
You May Also Like
SEP 14, 2021 7:00 AM PDT
C.E. CREDITS
SEP 14, 2021 7:00 AM PDT
Date: September 14, 2021 Time: 7am PDT, 10am EDT, 4pm CEST A conventional thermal cycler has long been a commodity product in the lab and end-point PCR techniques can be completed almost wit...
SEP 17, 2021 12:00 PM CST
C.E. CREDITS
SEP 17, 2021 12:00 PM CST
Date: September 16, 2021 Time: 9:00pm (PDT), 12:00am (EDT) 3D cellular models like organoids and spheroids offer an opportunity to better understand complex biology in a physiologically rele...
OCT 20, 2021 10:00 AM PDT
C.E. CREDITS
OCT 20, 2021 10:00 AM PDT
Date: October 20, 2021 Time:10:00am (PDT), 1:00pm (EDT) As the prevalence of Diabetes continues to rise in many areas across the globe, healthcare providers continue to look for methods that...
NOV 30, 2021 10:00 AM PST
C.E. CREDITS
NOV 30, 2021 10:00 AM PST
Date: November 30, 2021 Time: 10:00am (PDT), 1:00pm (EDT) The prevalence of thyroid disease worldwide has served as a catalyst for healthcare providers to study various tools and methods to...
NOV 09, 2021 11:00 AM PST
C.E. CREDITS
NOV 09, 2021 11:00 AM PST
Date: November 09, 2021 Time: 11:00am (PDT), 02:00pm (EDT) Clinical translation of human pluripotent stem cells (hPSCs) requires advanced strategies that ensure safe and robust long-term gro...
DEC 09, 2021 11:00 AM PST
C.E. CREDITS
DEC 09, 2021 11:00 AM PST
Date: December 09, 2021 Time: 11:00am (PDT), 2:00pm (EDT) The burden of antimicrobial resistance (AMR) has been acknowledged worldwide by leading health institutes. Besides the need for new...
NOV 12, 2015 9:00 AM PST

Introducing an ancestrally diverse whole genome data set for select cohort and control research applications



Show Resources
Loading Comments...
Show Resources