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Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning
Exome sequencing is 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, exome data are noisy. None of the existing methods alone can achieve both high precisio...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756945/ https://www.ncbi.nlm.nih.gov/pubmed/36124672 http://dx.doi.org/10.1093/nar/gkac788 |