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Article

ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies.

European journal of human genetics : EJHG - 1 Mar 2023

Glessner Joseph T, Li Jin, Liu Yichuan, Khan Munir, Chang Xiao, Sleiman Patrick M A, Hakonarson Hakon

Abstract excerpt

Improved copy number variation (CNV) detection remains an area of heavy emphasis for algorithm development; however, both CNV curation and disease association approaches remain in its infancy. The current practice of focusing on candidate CNVs, where researchers study specific CNVs they believe to be pathological while discarding others, refrains from considering the full spectrum of CNVs in a hypothesis-free...

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PMID: 36316489
DOI: 10.1038/s41431-022-01222-7
PMCID: PMC9995309

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