exome

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    Exome Sequencing Technique Reveals Genetic Suspects In Sporadic Lou Gehrig's Disease

    Researchers at the Stanford University School of Medicine have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS. Also known as Lou Gehrig's...
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    Cause Of Metabolic Disease Identified By Whole Exome Sequencing

    Sequencing a patient's entire genome to discover the source of his or her disease is not routine - yet. But geneticists are getting close. A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive...
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