High-throughput sequencing is changing the face of genetic diagnosis and counseling. While in the past, it would take on average 1 to 5 years to identify a mutation leading to deafness, today, the genetic basis for deafness can be determined within months in a child or adult with inherited hearing loss. Obstacles and challenges still remain, but the field is changing at a dramatic rate, making gene discovery a much easier and more efficient task than in the past.
|Number of pages||5|
|Journal||Journal of Basic and Clinical Physiology and Pharmacology|
|State||Published - Sep 2012|
- Homozygosity mapping
- Massively parallel sequencing
- Next-generation sequencing