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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Hlavní autoři:	Bing Xiao, Xiantao Ye, Lili Wang, Yanjie Fan, Xuefan Gu, Xing Ji, Yu Sun, Yongguo Yu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2020-07-01
Edice:	Frontiers in Genetics
Témata:	copy number variations chromosome rearrangement whole-genome low-coverage sequencing intellectual disability developmental delay
On-line přístup:	https://www.frontiersin.org/article/10.3389/fgene.2020.00616/full
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