Article

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

2022-09-14

Abstract excerpt

<title>Abstract</title> <p>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 1...

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Literature Corpus work: cb5f0648-0095-589a-be68-cadae4aa6b34
DOI: 10.21203/rs.3.rs-2041176/v1

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