Article

JAX-CNV: A whole genome sequencing-based algorithm for copy number detection at clinical grade level

2021-03-17

Abstract excerpt

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. The performance of this CNV calling algorithm was evaluated in a blinded manner on 31 samples and compared to the results of clinically-validated CMAs. Comparing to 112 C...

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Literature Corpus work: 528a9eb9-634a-5c95-9844-bec40b0fee56
DOI: 10.1101/2021.03.16.21252173

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