Polishing copy number variant calls on exome sequencing data via deep learning

Accurate and efficient detection of copy number variants (CNVs) is of critical importance owing to their significant association with complex genetic diseases. Although algorithms that use whole-genome sequencing (WGS) data provide stable results with mostly valid statistical assumptions, copy numbe...

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Detalles Bibliográficos
Autores principales: Özden, Furkan, Alkan, Can, Çiçek, A. Ercüment
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248885/
https://www.ncbi.nlm.nih.gov/pubmed/35697522
http://dx.doi.org/10.1101/gr.274845.120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248885/
https://www.ncbi.nlm.nih.gov/pubmed/35697522
http://dx.doi.org/10.1101/gr.274845.120

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