Next-generation genome: Expanding access to complex genomics for rare disease

ACMG Exhibit Theater

In this session, Dr. Fen Guo will present on her innovative approaches tackling complex rare diseases demonstrating the value of using genome sequencing (GS) as a tier-1 test, leveraging GS as the backbone for other workflows, and evaluating constellation mapped read technology for resolving complex variants in medically challenging genomic regions. Her talk invites us to think creatively about how advancing technology can uncover an unparalleled range of pathogenic abnormalities in rare disease.

Fen Guo, PhD, FACMG, FCCMG
Scientific Dir & CLIA/CAP Lab Dir
UPMC Clinical Genomics Laboratory, High Throughput Genomics Core
Assoc Program Dir, ABMGG Laboratory Genetics and Genomics Fellowship
Asst Professor, Univ of Pittsburgh

David Silva
Assoc Dir, Product Mgmt
Illumina

This webinar will be recorded on March 13 and will be made available on demand shortly thereafter.