Using Machine Learning to Explore Shared Genetic Pathways and Possible Endophenotypes in Autism Spectrum Disorder.

ABSTRACT: Autism spectrum disorder (ASD) is a heterogeneous condition, characterized by complex genetic architectures and intertwined genetic/environmental interactions. Novel analysis approaches to disentangle its pathophysiology by computing large amounts of data are needed. We present an advanced machine learning technique, based on a clustering analysis on genotypical/phenotypical embedding spaces, to identify biological processes that might act as pathophysiological substrates for ASD. This technique was applied to the VariCarta database, which contained 187,794 variant events retrieved from 15,189 individuals with ASD. Nine clusters of ASD-related genes were identified. The 3 largest clusters included 68.6% of all individuals, consisting of 1455 (38.0%), 841 (21.9%), and 336 (8.7%) persons, re

SUBMITTER: Di Giovanni D 

PROVIDER: S-EPMC9956345 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature