AUG 21, 2014 8:45 AM PDT

Genome and exome sequencing in a clinical laboratory

Speaker
  • Instructor of Pathology, BWH and Harvard Medical School, Assistant Laboratory Director and Senior IS Domain Specialist Laboratory for Molecular Medicine, Partners HealthCare Center for Perso
    BIOGRAPHY

Abstract

With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very valuable for the diagnosis of rare genetic disorders and a key to a more comprehensive disease treatment. These assays rely heavily on bioinformatics processes, and have unique requirements for implementation and validation., though there are currently limited guidelines for how to handle bioinformatics validation in the clinical lab setting for such complex tests. In this talk, we outline our laboratorys approach to tackling the issues faced in implementing clinical WGES, including methods and techniques to validate the assay and interpret the results. Well also detail our experiences offering WGES in clinical care, including our support of the MedSeq and BabySeq projects that are studying the return of genome and exome sequencing results in adults and newborns, respectively, in both healthy individuals and individuals with disease.


Show Resources
You May Also Like
FEB 15, 2023 7:00 AM PST
FEB 15, 2023 7:00 AM PST
Date: February 15, 2023 Time: 7:00am (PST), 10:00pm (EST), 4:00pm (CET) While not all microscopy samples can fluoresce, all can scatter light, and this scattered light can be imaged. This ha...
OCT 13, 2022 9:00 AM +08
OCT 13, 2022 9:00 AM +08
First Broadcast: Date: October 12, 2022 Time: 8:00am PDT, 11:00am EDT Second Broadcast: Date: October 12, 2022 Time: 9:00am SGT The new Embedded CryoSPARC Live, now fully integrated with t...
AUG 24, 2022 7:00 AM PDT
AUG 24, 2022 7:00 AM PDT
Date: August 24, 2022 Time: 7:00am (PDT), 10:00pm (EDT), 4:00pm (CEST) Light field microscopy was first introduced in 2006, and allows users to capture the 4D light field within the microsco...
AUG 10, 2022 10:00 AM PDT
AUG 10, 2022 10:00 AM PDT
Date: August 10, 2022 Time: 10:00am PDT, 1:00pm EDT The global pandemic has increased focus and scrutiny on molecular diagnostic assay development, resulting in a need for assays that provid...
C.E. CREDITS
Date: October 25, 2022 Time: 9:00am (PST), 12:00pm (EST), 6:00pm (CEST) Candida auris is a multi-drug resistant yeast that continues to be a global threat for infection and transmission in h...
SEP 28, 2022 9:00 AM PDT
SEP 28, 2022 9:00 AM PDT
Date: September 28, 2022 Time: 9:00am (PDT), 12:00pm (EDT), 6:00pm (CEST) While COVID-19 continues to be the most pressing diagnostic focus for clinical laboratories, HIV remains a serious g...
AUG 21, 2014 8:45 AM PDT

Genome and exome sequencing in a clinical laboratory



Show Resources
Loading Comments...
Show Resources