06 Dec, 2012Identifying Rare Diseases with Genome Analysis

Personalized medicine is increasingly becoming a reality, led by the idea that knowing more about genome will help customize the proper treatment, especially where rare diseases are concerned. Sequencing is the first step to learning more about a disease or a genetic pre-disposition, but the analysis step is where the valuable information comes from. Recently, we learned how studying human tissue can teach us about rare disease, but today we will look into how genetic analysis can help diagnose a rare disease.

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