Article
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
JAMA neurology - 1 Dec 2015
Ghaoui Roula, Cooper Sandra T, Lek Monkol, Jones Kristi, Corbett Alastair, Reddel Stephen W, Needham Merrilee, Liang Christina, Waddell Leigh B, Nicholson Garth, O'Grady Gina, Kaur Simranpreet, Ong Royston, Davis Mark, Sue Carolyn M, Laing Nigel G, North Kathryn N, MacArthur Daniel G, Clarke Nigel F
Abstract excerpt
IMPORTANCE: To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. OBJECTIVE: To translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify...
Topics
- Australia
- Computational Biology
- Exome
- Family Health
- Female
- Genetic Testing
- Humans
- Male
- Muscular Dystrophies, Limb-Girdle
- Mutation