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

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

gene bioinformatics GWAS NGS discovery WGS • 357 views
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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.

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5 months ago
Prash ▴ 130

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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