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