SOX7: Autism Associated Gene Identified by Analysis of Multi-Omics Data.

ABSTRACT: Genome-wide association studies and next generation sequencing data analyses based on DNA information have identified thousands of mutations associated with autism spectrum disorder (ASD). However, more than 99% of identified mutations are non-coding. Thus, it is unclear which of these mutations might be functional and thus potentially causal variants. Transcriptomic profiling using total RNA-sequencing has been one of the most utilized approaches to link protein levels to genetic information at the molecular level. The transcriptome captures molecular genomic complexity that the DNA sequence solely does not. Some mutations alter a gene's DNA sequence but do not necessarily change expression and/or protein function. To date, few common variants reliably associated with the diagnosis status

SUBMITTER: Gonzales S 

PROVIDER: S-EPMC10245991 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature