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Article

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

International journal of molecular sciences - 19 Jul 2022

Qorri Erda, Takács Bertalan, Gráf Alexandra, Enyedi Márton Zsolt, Pintér Lajos, Kiss Ernő, Haracska Lajos

Abstract excerpt

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...

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Identifiers

PMID: 35887294
DOI: 10.3390/ijms23147946
PMCID: PMC9322961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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