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JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level

We aimed to develop a whole-genome sequencing (WGS)-based copy number variant (CNV) calling algorithm with the potential of replacing chromosomal microarray assay (CMA) for clinical diagnosis. JAX-CNV is thus developed for CNV detection from WGS data. The performance of this CNV calling algorithm wa...

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Detalles Bibliográficos
Autores principales:	Lee, Wan-Ping, Zhu, Qihui, Yang, Xiaofei, Liu, Silvia, Cerveira, Eliza, Ryan, Mallory, Mil-Homens, Adam, Bellfy, Lauren, Ye, Kai, Lee, Charles, Zhang, Chengsheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Method
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10225484/ https://www.ncbi.nlm.nih.gov/pubmed/35085778 http://dx.doi.org/10.1016/j.gpb.2021.06.003

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