Dinucleotide composition representation -based deep learning to predict scoliosis-associated Fibrillin-1 genotypes.

ABSTRACT:

Introduction

Scoliosis is a pathological spine structure deformation, predominantly classified as "idiopathic" due to its unknown etiology. However, it has been suggested that scoliosis may be linked to polygenic backgrounds. It is crucial to identify potential Adolescent Idiopathic Scoliosis (AIS)-related genetic backgrounds before scoliosis onset.

Methods

The present study was designed to intelligently parse, decompose and predict AIS-related variants in ClinVar database. Possible AIS-related variant records downloaded from ClinVar were parsed for various labels, decomposed for Dinucleotide Compositional Representation (DCR) and other traits, screened for high-risk genes with statistical analysis, and then learned intelligently with deep learning to predict high-risk AIS g

SUBMITTER: Zhang S 

PROVIDER: S-EPMC11534654 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature