“Next Generation sequencing to study inherited diseases”.
Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed.
However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel.
The recently introduced high-throughput whole genome sequencing (WGS) technology now offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop tailor-made medical re-sequencing approaches for the gene identification and diagnosis of heterogeneous disorders.
Whole genome (WGS), whole exome (WES), and targeted re-sequencing (TRS) approaches are currently used to study inherited and complex diseases. In this light, results from WGS, WES and TRS analysis will be presented and discussed. In particular data on hearing loss, mental retardation and isolated populations will be described, discussing technical details as well as clinical implications.
