Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis

Background: Low-pass genome sequencing (GS) detects clinically significant copy number variants (CNVs) in prenatal diagnosis. However, detection at improved resolutions leads to an increase in the number of CNVs identified, increasing the difficulty of clinical interpretation and management. Methods...

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Detalles Bibliográficos
Autores principales: Chau, Matthew Hoi Kin, Qian, Jicheng, Chen, Zihan, Li, Ying, Zheng, Yu, Tse, Wing Ting, Kwok, Yvonne K., Leung, Tak Yeung, Dong, Zirui, Choy, Kwong Wai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488434/
https://www.ncbi.nlm.nih.gov/pubmed/34616436
http://dx.doi.org/10.3389/fgene.2021.742325

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488434/
https://www.ncbi.nlm.nih.gov/pubmed/34616436
http://dx.doi.org/10.3389/fgene.2021.742325

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