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Updated: Oct 5, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level

Wan-Ping Lee1, Qihui Zhu2, Xiaofei Yang3

  • 1Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; School of Cyber Science and Engineering, Xi'an Jiaotong University, Xi'an 710049, China; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Genomics, Proteomics & Bioinformatics
|January 27, 2022
PubMed

Keywords:
Chromosomal microarray assayCopy number variantGenetic testingJAX-CNVWhole-genome sequencing

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