The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.
Sarah J BeecroftPhillipa J LamontSamantha EdwardsHayley GoulléeMark R DavisNigel G LaingGianina RavenscroftPublished in: Molecular diagnosis & therapy (2020)
The impact of high-throughput sequencing in genetic neuromuscular disorders cannot be overstated. The ability to rapidly and affordably sequence multiple genes simultaneously has enabled a second golden age of Mendelian disease gene discovery, with flow-on impacts for rapid genetic diagnosis, evidence-based treatment, tailored therapy development, carrier-screening, and prevention of disease recurrence in families. However, there are likely many more neuromuscular disease genes and mechanisms to be discovered. Many patients and families remain without a molecular diagnosis following targeted panel sequencing, clinical exome sequencing, or even genome sequencing. Here we review how massively parallel, or next-generation, sequencing has changed the field of genetic neuromuscular disorders, and anticipate future benefits of recent technological innovations such as RNA-seq implementation and detection of tandem repeat expansions from short-read sequencing.
Keyphrases
- genome wide
- single cell
- copy number
- rna seq
- dna methylation
- end stage renal disease
- high throughput
- ejection fraction
- small molecule
- high throughput sequencing
- genome wide identification
- chronic kidney disease
- single molecule
- healthcare
- newly diagnosed
- loop mediated isothermal amplification
- drug delivery
- bone marrow
- label free
- health insurance
- bioinformatics analysis
- quality improvement
- free survival