Whole-exome sequencing identifies inherited mutations in autism

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Exome sequencing

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The 30-10 rule of exome sequencing. Exome sequencing is likely to discover the cause in patients with presumed genetic neurodevelopmental disorders in ~30%. In ~10% of patients, this new diagnosis is likely to alter patient management.

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BCM Researcher Reveals Whole-Exome Sequencing Effective In Discovering Rare Disorders

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