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

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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Bibliographic Details
Main Authors: Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Genomics, Proteomics & Bioinformatics
Subjects:
Copy number variant
Chromosomal microarray assay
Whole-genome sequencing
JAX-CNV
Genetic testing
Online Access:http://www.sciencedirect.com/science/article/pii/S1672022922000055

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http://www.sciencedirect.com/science/article/pii/S1672022922000055

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