Abstract
Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders.These studies demonstrate the strengths, limitations and potential of CES in neurology practice.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Exome*
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Genetic Testing / economics
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Genetic Testing / ethics
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Genetic Testing / methods*
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Humans
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Molecular Diagnostic Techniques / economics
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Molecular Diagnostic Techniques / ethics
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Molecular Diagnostic Techniques / methods*
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Nervous System Diseases / diagnosis
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Nervous System Diseases / genetics
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Neurology / economics
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Neurology / ethics
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Neurology / methods*
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Sequence Analysis / economics
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Sequence Analysis / ethics
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Sequence Analysis / methods*