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Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients

Simple copy number variations (CNVs) detected by chromosomal microarray (CMA) can result from complex structural changes. Therefore, it is necessary to characterize potential structural changes that cause pathogenic CNVs. We applied whole-genome low-coverage sequencing (WGLCS) to concurrently detect...

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Principais autores: Bing Xiao, Xiantao Ye, Lili Wang, Yanjie Fan, Xuefan Gu, Xing Ji, Yu Sun, Yongguo Yu
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-07-01
coleção:Frontiers in Genetics
Assuntos:
copy number variations
chromosome rearrangement
whole-genome low-coverage sequencing
intellectual disability
developmental delay
Acesso em linha:https://www.frontiersin.org/article/10.3389/fgene.2020.00616/full
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