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You've heard about genome sequencing -- but what's exome sequencing?


Image in public domain (via Wiki Commons).
Despite our differences, human beings share 99.9% of the genome. In other words, we all differ by a mere 0.1% of genes, which triggers the difference in the way we appear, grow, and develop.
Over 80% of rare diseases are caused by genetic mutations in that miniscule difference, and it’s estimated that such undiagnosed diseases affect about 8% of our population. Detecting such diseases is challenging, but researchers are working on new promising techniques.
Potential forms of diagnosis for rare and undiagnosed diseases include:
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Next Generation Sequencing (NGS), which refers to all large-scale DNA sequencing methods that allows for mapping the entire genome (whole genome sequencing); ....

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