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Exome Sequencing Next “Big Thing” for Diagnosis

Exomes make up just 1.5% of human genome, yet this is where 85% of disease mutations exist

CEO SUMMARY: For disease diagnostics, exome sequencing is not yet routine, but geneticists are getting close. Using this technology, researchers read those parts of the human genome where about 85% of disease-causing mutations reside. By looking only at the regions that encode proteins—the workhorse machinery of the cell—researchers identify dis- ease causes much faster than …

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