Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion or translocations), and complex combinations...

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Bibliographic Details
Main Authors: Cao, Y. (Author), Chau, M.H.K (Author), Cheng, S.S.W (Author), Chong, J.S.C (Author), Choy, K.W (Author), Dong, Z. (Author), Leung, T.Y (Author), Li, A.M (Author), Lo, I.F.M (Author), Luk, H.M (Author), Xue, S. (Author), Zhang, Y. (Author)
Format: Article
Language:English
Published: Frontiers Media S.A. 2022
Subjects:
Absence of heterozygosity (AOH)
CNV (copy number variant)
complex rearrangements
insertion
inversion
mate-pair genome sequencing
neurodevelopmental disorders
structural variations
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