Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. Methods: We identified MCAs in genotyping array data from 12,530 probands in the Decip...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2023-01-01
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Series: | Genetics in Medicine Open |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423008452 |