Article
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
BMC medical genomics - 18 Feb 2022
Manshaei Roozbeh, DeLong Sean, Andric Veronica, Joshi Esha, Okello John B A, Dhir Priya, Somerville Cherith, Farncombe Kirsten M, Kalbfleisch Kelsey, Jobling Rebekah K, Scherer Stephen W, Kim Raymond H, Hosseini S Mohsen
Abstract excerpt
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 variant interpretation, we developed the GeneTerpret platform which collates data from current interpretation tools and databases,...
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