Video Lecture ARCHIVED: NOT AVAILABLE FOR CREDIT

Clinical Sequencing by Sanger: State of the Art in a Next-Gen World

Although technical advances of “next generation” platforms allow for high throughput processing, Sanger sequencing is considered a gold standard and will continue to be an important part of clinical molecular diagnostics. Applications center on single gene disorders, targeted somatic mutation detection and viral genotyping and resistance testing. Familiarity with individual genes and diseases is needed for proper assay design. For clinical purposes, robust sequencing assays are essential for providing accurate results with efficient turn-around times. While regions of genes such as polynucleotide tracts or insertions/deletions may be difficult to sequence, primer design and careful alignment can ensure complete coverage. Workflow processes may provide efficiencies in cost and time savings. This seminar will present examples and discuss practical approaches to address these issues in a clinical setting.

Originally presented October 05, 2011, in Salt Lake City, Utah.

Lecture Presenter

Elaine Lyon, PhD Elaine Lyon, PhD
Medical Director, Genetics Division, ARUP Laboratories
Associate Professor of Pathology, University of Utah School of Medicine

Dr. Lyon is the medical director of the Genetics Division, co-medical director of Pharmacogenomics, and co-director of the Molecular Genetics Fellowship Program at ARUP, and an associate professor of pathology at the University of Utah School of Medicine. She received her PhD in medical genetics from the University of Alabama at Birmingham and continued with fellowship training in clinical molecular genetics at the University of Utah. Dr. Lyon combines clinical laboratory responsibilities with research and development in human genetics, employing methods for mutation detection by targeted mutation analysis, gene sequencing, gene scanning, exonic-level deletion, and duplications and molecular haplotyping. Dr. Lyon has focused her interest in studies to determine the significance of rare variants and is involved with evaluating and establishing locus-specific databases that combine genetic variants with clinical symptoms.

Objectives

After this presentation, participants will be able to:

  • Describe assay design considerations for complete coverage of regions to be interrogated
  • Discuss validation approaches to establish performance characteristics and ensure test accuracy and robustness
  • List challenges in and solutions for complex data analysis and interpretation
  • Discuss workflow measures for implementing efficient Sanger sequencing assays into the clinical laboratory

Sponsored by:

University of Utah School of Medicine and ARUP Laboratories