Monday, March 30, 2020

AGBT Roche and PacBio Workshop: Leveraging SMRT Sequencing technology for developing niche assays with diagnostic potential

Robert Sebra reports the use of SMRT Sequencing at the Icahn Institute and presents some early data from the new Sequel System. Topics include: Targeted sequencing applications for CYP2D6 metabolism and Gaucher disease, tandem repeat detection in FTD/ALS patients, structural variation detection for Goldenhar Syndrome, inverted PCR assays for detection of DNA damage in Glioblastome, whole gene BRCA sequencing, and sensitive somatic variant detection in heterogeneous tissues.

Read More »