SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require extensive back-and-forth with multiple tools and databases. This increases complexity and time burden, potentially resulting in missed genetic diagnoses. We p...

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Detalles Bibliográficos
Autores principales: Ding, Qiliang, Somerville, Cherith, Manshaei, Roozbeh, Trost, Brett, Reuter, Miriam S., Kalbfleisch, Kelsey, Stanley, Kaitlin, Okello, John B. A., Hosseini, S. Mohsen, Liston, Eriskay, Curtis, Meredith, Zarrei, Mehdi, Higginbotham, Edward J., Chan, Ada J. S., Engchuan, Worrawat, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Kim, Raymond H., Jobling, Rebekah K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918589/
https://www.ncbi.nlm.nih.gov/pubmed/36376761
http://dx.doi.org/10.1007/s00439-022-02494-1

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