Article

Accurate <i>in silico</i> confirmation of rare copy number variant calls from exome sequencing data using transfer learning

2022-03-12

Abstract excerpt

Exome sequencing has been widely used in genetic studies of human diseases and clinical genetic diagnosis. Accurate detection of copy number variants (CNVs) is important to fully utilize exome sequencing data. However, due to the nature of noisy data, none of the existing methods can achieve high precision and high recall rate at the same time. A common practice is to perform filtration with quality metrics follow...

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Literature Corpus work: 4fc0e409-3bde-5c64-acd5-568b2f62c492
DOI: 10.1101/2022.03.09.483665

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