Article

The diagnostic yield of intellectual disability: Combined whole genome low-coverage sequencing and medical exome sequencing

2020-04-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>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). <bold>Methods:</bold> To identify an appropriate clinical detection scheme for ID in Han Chi...

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Literature Corpus work: b9586349-369e-5cdb-9d0c-997921585306
DOI: 10.21203/rs.2.18388/v4

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