Gain of Function Mutation - AI Medical Compendium

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Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

Biology open Apr 24, 2024

Distinguishing clinical subgroups for patients suffering with diseases characterized by a wide phenotypic spectrum is essential for developing precision therapies. Patients with gain-of-function (GOF) variants in the SCN8A gene exhibit substantial cl...

Humans Machine Learning Algorithms Phenotype Prognosis Female Adult Male Genetic Predisposition to Disease Gain of Function Mutation NAV1.6 Voltage-Gated Sodium Channel

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VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants.

Briefings in bioinformatics Jan 19, 2023

Determining the pathogenicity and functional impact (i.e. gain-of-function; GOF or loss-of-function; LOF) of a variant is vital for unraveling the genetic level mechanisms of human diseases. To provide a 'one-stop' framework for the accurate identifi...

Humans Deep Learning Genome Gain of Function Mutation

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AIMC Topic: Gain of Function Mutation

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants.

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AIMC Topic: Gain of Function Mutation

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants.

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