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Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics

PURPOSE: Absence of heterozygosity (AOH) is a genetic characteristic known to cause human genetic disorders through autosomal recessive or imprinting mechanisms. However, the analysis of AOH via low-pass genome sequencing (GS) is yet to be clinically available. METHODS: Low-pass GS (4-fold) with dif...

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Detalles Bibliográficos
Autores principales:	Dong, Zirui, Chau, Matthew Hoi Kin, Zhang, Yanyan, Yang, Zhenjun, Shi, Mengmeng, Wah, Yi Man, Kwok, Yvonne K., Leung, Tak Yeung, Morton, Cynthia C., Choy, Kwong Wai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522200/ https://www.ncbi.nlm.nih.gov/pubmed/33772221 http://dx.doi.org/10.1038/s41436-021-01128-7

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