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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability - European Journal of Human Genetics

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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability - European Journal of Human Genetics

We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and 21,857 saliva samples. Our cohort comprised 370 individuals who had testing of both, 224 with syndromic intellectual disability (ID) and 146 with isolated ID.

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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability - European Journal of Human Genetics

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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability - European Journal of Human Genetics

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