The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Abstract Background Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of copy number variation (CNV). Methods...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2020-05-01T00:00:00Z.
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A1234.567 |
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