A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.

ABSTRACT: The rapid integration of genomic technologies in clinical diagnostics has resulted in the detection of a multitude of missense variants whose clinical significance is often unknown. As a result, a plethora of computational tools have been developed to facilitate variant interpretation. However, choosing an appropriate software from such a broad range of tools can be challenging; therefore, systematic benchmarking with high-quality, independent datasets is critical. Using three independent benchmarking datasets compiled from the ClinVar database, we evaluated the performance of ten widely used prediction algorithms with missense variants from 21 clinically relevant genes, including BRCA1 and BRCA2. A fourth dataset consisting of 1053 missense variants was also used to investig

SUBMITTER: Qorri E 

PROVIDER: S-EPMC9322961 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature