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

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

Abstract 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 g...

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Bibliographic Details
Main Authors: Ding, Qiliang, Somerville, Cherith, Manshaei, Roozbeh, Trost, Brett, Reuter, Miriam S., Kalbfleisch, Kelsey, Stanley, Kaitlin, Okello, John B. A., Hosseini, S. M., 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.
Other Authors: Sloan School of Management
Format: Article
Language:English
Published: Springer Berlin Heidelberg 2022
Online Access:https://hdl.handle.net/1721.1/146556

Internet

https://hdl.handle.net/1721.1/146556

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