ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Agatha SchlüterValentina Vélez-SantamaríaEdgard VerduraAgustí Rodríguez-PalmeroMontserrat RuizStéphane FourcadeLaura Planas-SerraNathalie LaunayCristina GuileraJuan José MartínezChristian Homedes-PedretM Antonia Albertí-AguilóMiren ZulaikaItxaso MartíMónica TroncosoMiguel Tomás-VilaGemma BullichM Asunción García-PérezMaría-Jesús Sobrido-GómezEduardo López-LasoCarme FonsMireia Del ToroAlfons Macayanull nullSergi BeltranLuis G Gutiérrez-SolanaLuis A Pérez-JuradoSergio Aguilera-AlbesaAdolfo López de MunainCarlos CasasnovasAurora PujolPublished in: Genome medicine (2023)
ClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses.
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