Validation of spinal muscular atrophy copy-number caller using 13,000 whole-genome sequence data

Summary

Genetically, the leading cause of deaths in infants is the neurodegenerative disease, spinal muscular atrophy (SMA). It is caused by the spinal cord motor neurons degenerating leading to hypertonia and muscle weakness. There are 4 types of SMA which differ in age of onset, severity and age of death. (2)  Genetic sequencing of the SMA gene region is important for accurate diagnosis and is also important as part of the genetic information can provide information on the severity of the condition. Early diagnosis can lead to the use of nusinersen which can halt disease progression. We would like to test a new method of sequencing the genetic information associated with SMA which will hopefully lead to better screening and diagnosis.