Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.

ABSTRACT:

Background

Variants in genes encoding voltage-gated potassium channels are associated with a broad spectrum of neurological diseases including epilepsy, ataxia, and intellectual disability. Knowledge of the resulting functional changes, characterized as overall ion channel gain- or loss-of-function, is essential to guide clinical management including precision medicine therapies. However, for an increasing number of variants, little to no experimental data is available. New tools are needed to evaluate variant functional effects.

Methods

We catalogued a comprehensive dataset of 959 functional experiments across 19 voltage-gated potassium channels, leveraging data from 782 unique disease-associated and synthetic variants. We used these data to train a taxonomy-based multi-tas

SUBMITTER: Boßelmann CM 

PROVIDER: S-EPMC9250003 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature