Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis

Objective: Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms. The importance and necessity of accurate AOH detection has become more clinically significant in recent years. However, it remains a challen...

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Detalles Bibliográficos
Autores principales: Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Lü, Guizhen, Guo, Xiangxue, Guo, Ruidong, Liu, Wenjie, Xu, Chenlu, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei (Victor), Qi, Qingwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9914714/
https://www.ncbi.nlm.nih.gov/pubmed/36766665
http://dx.doi.org/10.3390/diagnostics13030560

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