From cytogenetics to cytogenomics: Wholegenome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

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Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.
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From cytogenetics to cytogenomics: Wholegenome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

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Genome medicine Whole-genome sequencing Intellectual disability Monogenic disease Copy number variation Structural variation

From cytogenetics to cytogenomics: Wholegenome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

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