Forum:What sequencing method is the most efficient for identifying genes driving rare diseases?

Question

[ehsanmofidichelan]

What sequencing method is the most efficient for identifying genes driving rare diseases?

I have access only on a single patient in the whole country, therefore I'll have a single biopsy sample

[Michael]

I think you should first get into contact with a national competence centre for rare diseases and consecutively and possibly with their help search for patients world-wide.

Answer 1

[Prash]

If it is the methodology, there are various ways. The ideal would be clinical exome/panel. As many rare diseases are monogenic, you could circumvent the approach with a targeted genome sequencing or further validate the variants using Sanger or Kaspar

Hope this helps Prash