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http://dx.doi.org/10.1111/pai.13750 | DOI Listing |
Rheumatol Adv Pract
August 2024
Department of Rheumatology, Royal Wolverhampton Hospitals NHS Trust, Wolverhampton, UK.
Eur Arch Otorhinolaryngol
June 2024
Deparment of Medical, Surgical Sciences and Advanced Technologies G.F. Ingrassia, University of Catania, 95123, Catania, Italy.
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind predictions of phenotypes from genetic data, and these were evaluated by independent assessors.
Results: Performance was particularly strong for clinical pathogenic variants, including some difficult-to-diagnose cases, and extends to interpretation of cancer-related variants.
Cephalalgia
January 2024
Laboratory for Advanced Analysis of Neuroimages, Faculty of Physical Chemistry, University of Belgrade, Belgrade, Serbia.
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