Gain of Function Mutation

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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 36528806

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...

Deep Learning Gain of Function Mutation Genome Humans

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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 38466077

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...

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

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Gain of Function Mutation

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

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

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