Article

CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets

2022-06-27

Abstract excerpt

Copy number variants (CNVs) are a major cause of rare pediatric diseases with a broad spectrum of phenotypes. Genetic diagnosis based on comparative genomic hybridization tests typically identifies ∼8-10% of patients as having CNVs of unknown significance, revealing the current limits of clinical interpretation. The adoption of whole-genome sequencing (WGS) as a first-line genetic test has significantly increased...

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Literature Corpus work: 30cc40f2-d33f-53cb-b775-1824126b8c10
DOI: 10.1101/2022.06.23.22276396

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CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasetsDOI 10.1101/2022.06.23.22276396Read

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