AIMC Topic: Nystagmus, Congenital

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PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.

American journal of human genetics Jan 20, 2022
In recent years, exome sequencing (ES) has shown great utility in the diagnoses of Mendelian disorders. However, after rigorous filtering, a typical ES analysis still involves the interpretation of hundreds of variants, which greatly hinders the rapi...
Humans Machine Learning Software Phenotype Cohort Studies Genotype Computational Biology Databases, Genetic Genetic Testing Scoliosis Exome Sequencing Hearing Loss, Sensorineural Intellectual Disability Genetic Diseases, Inborn Exome Microcephaly Nystagmus, Congenital
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Grading of Foveal Hypoplasia Using Deep Learning on Retinal Fundus Images.

Translational vision science & technology May 1, 2025
PURPOSE: This study aimed to develop and evaluate a deep learning model for grading foveal hypoplasia using retinal fundus images.
Humans Retrospective Studies Female Adult Male Infant Deep Learning Adolescent Child, Preschool Child ROC Curve Tomography, Optical Coherence Fundus Oculi Fovea Centralis Eye Diseases, Hereditary Nystagmus, Congenital
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