Tuesday, October 25 | Room 402AB | Lunch 11:15, Talks 11:45-12:45
New Sequencing Technologies for Undiagnosed Diseases
Sponsored by the Department of Molecular and Human Genetics and the Undiagnosed Diseases Center at Baylor College of Medicine
Advanced genomic assays have been used in the research setting to diagnose undiagnosed disease patients. Strategies that vastly reduce the cost of sequencing will enable broader reach to underinsured and underserved populations. Another impact will be vastly increasing data density and read depth with concomitant improvement in sensitivity and throughput. This symposium brings together leaders in clinical genomic implementation and advanced genome sequencing technologies to present their efforts to translate these methods to the clinical diagnostic laboratory setting.
Introduction
Brendan Lee, M.D., Ph.D. | Robert and Janice McNair Endowed Chair and Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
Deep RNAseq for Undiagnosed Disease Diagnosis
Pengfei Liu, Ph.D., Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine
Validation for Clinical Reporting of Whole Genome Sequencing
Christine Eng, M.D., Professor and Vice Chair for Diagnostic Laboratory Affairs, Department of Molecular and Human Genetics, Baylor College of Medicine, Chief Quality Officer, Chief Medical Officer, Baylor Genetics
Novel Sequencing Technologies for WGS-based Clinical Genomics
Doron Lipson, Ph.D., CSO, Ultima Genomics
Wednesday, October 26 | 3:00 – 4:45pm
PB2902 | An evaluation of the Ultima Genomics sequencing platform: Scalable, high-throughput sequencing for low-cost whole genome sequencing
M. Coole, et. al. The Broad Institute of MIT and Harvard
PB3088 | Novel sequencing platform using an open fluidics architecture and mostly natural chemistry for cost-efficient whole genome sequencing.
D. Lipson, et. al. Ultima Genomics
Thursday, October 27 | 3:00 – 4:45pm
PB1063 | Deep and error corrected sequencing via the low-cost Ultima Genomics platform enables ultra-sensitive circulating tumor DNA cancer monitoring
A. Cheng, et. al. Weill Cornell Medical Center
PB2936 | Clinical genome and RNA sequencing with a novel, cheaper sequencing-by-synthesis technology
P. Liu, et. al. Baylor College of Medicine
PB3130 | Sentieon DNAscope: high accuracy small variant calling using machine learning
B. Gallagher. Sentieon Inc
