Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report

Objective: Mosaicism is a common biological phenomenon in organisms and has been reported in many types of chromosome abnormalities, including the absence of heterozygosity (AOH). Due to the detection limitations of the sequencing approach, mosaic AOH events are rarely assessed in clinical cases. He...

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Detalles Bibliográficos
Autores principales: Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Xu, Chenlu, Guo, Ruidong, 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/PMC10529865/
https://www.ncbi.nlm.nih.gov/pubmed/37761262
http://dx.doi.org/10.3390/diagnostics13182895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10529865/
https://www.ncbi.nlm.nih.gov/pubmed/37761262
http://dx.doi.org/10.3390/diagnostics13182895

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