AIMC Topic: Microcephaly

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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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Detecting microcephaly and macrocephaly from ultrasound images using artificial intelligence.

BMC medical imaging May 26, 2025
BACKGROUND: Microcephaly and macrocephaly, which are abnormal congenital markers, are associated with developmental and neurologic deficits. Hence, there is a medically imperative need to conduct ultrasound imaging early on. However, resource-limited...
Humans Artificial Intelligence Pregnancy Female Ultrasonography, Prenatal Deep Learning Ethiopia Microcephaly Megalencephaly
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