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.


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AUG 21, 2014 8:45 AM PDT

Genome and exome sequencing in a clinical laboratory


Specialty

Bioinformatics

Cancer Research

Oncology

Gene Sequencing

Drug Discovery

Mass Cytometry

Cell Culture

T-Cells

Biomarkers

Immunotherapeutics

Virology

Immunology

Dna Sequencing

Personalized Medicine

Clinical Diagnostics

Geography

North America33%

Europe33%

Africa33%

Registration Source

Website Visitors100%

Job Title

Student33%

Educator/Faculty33%

Scientist33%

Organization

Academic Institution67%

Clinical Laboratory33%


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