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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Xiao, Bing, Ye, Xiantao, Wang, Lili, Fan, Yanjie, Gu, Xuefan, Ji, Xing, Sun, Yu, Yu, Yongguo
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7357533/
https://ncbi.nlm.nih.gov/pubmed/32733533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00616
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