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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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Detalles Bibliográficos
Autores principales:	Xiao, Bing, Ye, Xiantao, Wang, Lili, Fan, Yanjie, Gu, Xuefan, Ji, Xing, Sun, Yu, Yu, Yongguo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357533/ https://www.ncbi.nlm.nih.gov/pubmed/32733533 http://dx.doi.org/10.3389/fgene.2020.00616

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