GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

• Main Authors: Roozbeh Manshaei (Author), Sean DeLong (Author), Veronica Andric (Author), Esha Joshi (Author), John B. A. Okello (Author), Priya Dhir (Author), Cherith Somerville (Author), Kirsten M. Farncombe (Author), Kelsey Kalbfleisch (Author), Rebekah K. Jobling (Author), Stephen W. Scherer (Author), Raymond H. Kim (Author), S. Mohsen Hosseini (Author)
• Format: Book
• Published: BMC, 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of several, mostly independent, computational tools. To streamline varian...