Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
7519181 | Journal of Clinical Epidemiology | 2017 | 18 Pages |
Abstract
Genome-wide (exome or whole genome) sequencing with appropriate genetic counseling should be considered for any patient with a suspected Mendelian disease that has not been identified by conventional testing. Clinical genome-wide sequencing provides a powerful and effective means of identifying specific genetic causes of serious disease and improving clinical care.
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Authors
Shelin Adam, Jan M. Friedman,